To see the other types of publications on this topic, follow the link: Genetic childhood disorder.
Journal articles on the topic 'Genetic childhood disorder'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 journal articles for your research on the topic 'Genetic childhood disorder.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.
1
Hildebrand, Michael S., Victoria E. Jackson, Thomas S. Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O. Braden, Samantha Turner, et al. "Severe childhood speech disorder." Neurology 94, no. 20 (April 28, 2020): e2148-e2167. http://dx.doi.org/10.1212/wnl.0000000000009441.
Full textAbstract:
ObjectiveDetermining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained. To test the hypothesis that speech disorders have a genetic etiology, we performed genetic analysis of children with severe speech disorder, specifically childhood apraxia of speech (CAS).MethodsPrecise phenotyping together with research genome or exome analysis were performed on children referred with a primary diagnosis of CAS. Gene coexpression and gene set enrichment analyses were conducted on high-confidence gene candidates.ResultsThirty-four probands ascertained for CAS were studied. In 11/34 (32%) probands, we identified highly plausible pathogenic single nucleotide (n = 10; CDK13, EBF3, GNAO1, GNB1, DDX3X, MEIS2, POGZ, SETBP1, UPF2, ZNF142) or copy number (n = 1; 5q14.3q21.1 locus) variants in novel genes or loci for CAS. Testing of parental DNA was available for 9 probands and confirmed that the variants had arisen de novo. Eight genes encode proteins critical for regulation of gene transcription, and analyses of transcriptomic data found CAS-implicated genes were highly coexpressed in the developing human brain.ConclusionWe identify the likely genetic etiology in 11 patients with CAS and implicate 9 genes for the first time. We find that CAS is often a sporadic monogenic disorder, and highly genetically heterogeneous. Highly penetrant variants implicate shared pathways in broad transcriptional regulation, highlighting the key role of transcriptional regulation in normal speech development. CAS is a distinctive, socially debilitating clinical disorder, and understanding its molecular basis is the first step towards identifying precision medicine approaches.
2
de Jong, Simone, Stephen J. Newhouse, Hamel Patel, Sanghyuck Lee, David Dempster, Charles Curtis, Jose Paya-Cano, et al. "Immune signatures and disorder-specific patterns in a cross-disorder gene expression analysis." British Journal of Psychiatry 209, no. 3 (September 2016): 202–8. http://dx.doi.org/10.1192/bjp.bp.115.175471.
Full textAbstract:
BackgroundRecent studies point to overlap between neuropsychiatric disorders in symptomatology and genetic aetiology.AimsTo systematically investigate genomics overlap between childhood and adult attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and major depressive disorder (MDD).MethodAnalysis of whole-genome blood gene expression and genetic risk scores of 318 individuals. Participants included individuals affected with adult ADHD (n = 93), childhood ADHD (n = 17), MDD (n = 63), ASD (n = 51), childhood dual diagnosis of ADHD–ASD (n = 16) and healthy controls (n = 78).ResultsWeighted gene co-expression analysis results reveal disorder-specific signatures for childhood ADHD and MDD, and also highlight two immune-related gene co-expression modules correlating inversely with MDD and adult ADHD disease status. We find no significant relationship between polygenic risk scores and gene expression signatures.ConclusionsOur results reveal disorder overlap and specificity at the genetic and gene expression level. They suggest new pathways contributing to distinct pathophysiology in psychiatric disorders and shed light on potential shared genomic risk factors.
3
Minnis, Helen, Joanne Reekie, David Young, Tom O'Connor, Angelica Ronald, Alison Gray, and Robert Plomin. "Genetic, environmental and gender influences on attachment disorder behaviours." British Journal of Psychiatry 190, no. 6 (June 2007): 490–95. http://dx.doi.org/10.1192/bjp.bp.105.019745.
Full textAbstract:
BackgroundDespite current interest in attachment disorder, there is concern about its discrimination from other disorders and an unproven assumption of an environmental aetiology.AimsTo test whether behaviours suggestive of attachment disorder are distinct from other childhood behavioural and emotional problems and are solely environmentally determined.MethodIn a community sample of 13472 twins, we carried out factor analysis of questionnaire items encompassing behaviours indicative of attachment disorder, conduct problems, hyperactivity and emotional difficulties. We used behavioural genetic model-fitting analysis to explore the contribution of genes and environment.ResultsFactor analysis showed clear discrimination between behaviours suggestive of attachment disorder, conduct problems, hyperactivity and emotional problems. Behavioural genetics analysis suggested a strong genetic influence to attachment disorder behaviour, with males showing higher heritability.ConclusionsBehaviours suggestive of attachment disorder can be differentiated from common childhood emotional and behavioural problems and appear to be strongly genetically influenced, particularly in boys.
4
FU, Q., A. C. HEATH, K. K. BUCHOLZ, E. C. NELSON, A. L. GLOWINSKI, J. GOLDBERG, M. J. LYONS, et al. "A twin study of genetic and environmental influences on suicidality in men." Psychological Medicine 32, no. 1 (January 2002): 11–24. http://dx.doi.org/10.1017/s0033291701004846.
Full textAbstract:
Background. Previous studies that have examined genetic influences on suicidal behaviour were confounded by genetic vulnerability for psychiatric risk factors. The present study examines genetic influences on suicidality (i.e. suicidal ideation and/or suicide attempt) after controlling for the inheritance of psychiatric disorders.Methods. Sociodemographics, combat exposure, lifetime DSM-III-R major depression, bipolar disorder, childhood conduct disorder, adult antisocial personality disorder, panic disorder, post-traumatic stress disorder, drug dependence, alcohol dependence and lifetime suicidal ideation and attempt were assessed in 3372 twin pairs from the Vietnam Era Twin Registry who were assessed in 1987 and 1992. Genetic risk factors for suicidality were examined in a multinomial logistic regression model. Additive genetic, shared environmental and non-shared environmental effects on suicidality were estimated using structural equation modelling, controlling for other risk factors.Results. The prevalence of suicidal ideation and suicide attempt were 16·1% and 2·4% respectively. In a multinomial regression model, co-twin’s suicidality, being white, unemployment, being other than married, medium combat exposure and psychiatric disorders were significant predictors for suicidal ideation. Co-twin’s suicidality, unemployment, marital disruption, low education attainment and psychiatric disorders (except childhood conduct disorder) were significant predictors for suicide attempt. Model-fitting suggested that suicidal ideation was influenced by additive genetic (36%) and non-shared environmental (64%) effects, while suicide attempt was affected by additive genetic (17%), shared environmental (19%) and non-shared environmental (64%) effects.Conclusions. There may be a genetic susceptibility specific to both suicidal ideation and suicide attempt in men, which is not explained by the inheritance of common psychiatric disorders.
5
Ambrose, Nicoline Grinager, Ehud Yairi, and Nancy Cox. "Genetic Aspects of Early Childhood Stuttering." Journal of Speech, Language, and Hearing Research 36, no. 4 (August 1993): 701–6. http://dx.doi.org/10.1044/jshr.3604.701.
Full textAbstract:
Although stuttering has long been acknowledged as a familial disorder, the nature of a genetic component remains unclear. Most previous data used in genetic studies were obtained primarily from adults who stutter and may be biased in several respects. The purpose of this investigation was to quantify the frequency of stuttering in relatives of preschool-age children who stutter, and who were first seen close to the onset of the disorder. Detailed pedigrees (family trees), including first-, second-, and third-degree relatives, were obtained from parents of 69 children who stuttered. We found, as have previous studies, that more male than female relatives ever stuttered, but that female subjects who stuttered had more female relatives who ever stuttered than did male subjects. In order to identify the genetic model most consistent with the observed patterns of stuttering transmission, we conducted segregation analyses. Results from these analyses suggest that transmission of a single major genetic locus increasing the liability to stuttering best accounts for the transmission of stuttering in families of preschool-age children who stutter.
6
Eagles, John M. "Bipolar affective disorder and childhood adversity: Possible genetic links?" British Journal of Psychiatry 210, no. 5 (May 2017): 368. http://dx.doi.org/10.1192/bjp.210.5.368a.
Full text
7
Smalley, Susan L. "Genetic Influences in Childhood-Onset Psychiatric Disorders: Autism and Attention-Deficit/Hyperactivity Disorder." American Journal of Human Genetics 60, no. 6 (June 1997): 1276–82. http://dx.doi.org/10.1086/515485.
Full text
8
Jaworska-Andryszewska, Paulina, and Janusz Rybakowski. "Pharmacotherapy and psychotherapy for bipolar disorder in the context of early childhood trauma." Pharmacotherapy in Psychiatry and Neurology 35, no. 1 (March 29, 2019): 37–50. http://dx.doi.org/10.33450/fpn.2019.04.001.
Full textAbstract:
The current pathogenic paradigm of mood disorders proposes a model of gene-environment interaction, linking genetic predisposition, epigenetic regulation and effects of the environment. Among multiple environmental factors, the experience of childhood trauma can be connected with the pathogenesis and course of bipolar disorder (BD) as well as play a role in its pharmacological and psychotherapeutic treatment. Genetic predisposition and epigenetic factors are significant factors that shape the mechanisms of the influence of childhood trauma on the occurrence and course of BD in adulthood. By examining the influence of a number of genes on genetic predisposition, evidence was obtained that the most important genes in this respect are the serotonin transporter gene and the FKBP5 gene. Neurobiological effects can also involve epigenetic mechanisms such as DNA methylation, which can exert an effect on brain function over long-term periods. Moreover, the paper discusses the significance of early childhood trauma in therapeutic management of bipolar disorder. Negative childhood experiences can be connected with difficulties in pharmacological treatment, such as resistance to treatment with antidepressants and mood-stabilisers. Psychotherapeutic methods that directly or indirectly address early childhood trauma play an important role in the treatment of patients suffering from bipolar disorder, who have experienced such events. Among these methods, the most promising data were obtained for psychoeducation and cognitive-behavioural therapy. It appears that psychotherapy should be considered in every patient with the experience of early childhood trauma. Psychotherapeutic management combined with pharmacotherapy significantly improves the results of pharmacological treatment.
9
Riglin, Lucy, Ajay K. Thapar, Beate Leppert, Joanna Martin, Alexander Richards, Richard Anney, George Davey Smith, et al. "Using Genetics to Examine a General Liability to Childhood Psychopathology." Behavior Genetics 50, no. 4 (December 11, 2019): 213–20. http://dx.doi.org/10.1007/s10519-019-09985-4.
Full textAbstract:
AbstractPsychiatric disorders show phenotypic as well as genetic overlaps. There are however also marked developmental changes throughout childhood. We investigated the extent to which, for a full range of early childhood psychopathology, a general “p” factor was explained by genetic liability, as indexed by multiple different psychiatric polygenic risk scores (PRS) and whether these relationships altered with age. The sample was a UK, prospective, population-based cohort with psychopathology data at age 7 (N = 8161) and age 13 (N = 7017). PRS were generated from large published genome-wide association studies. At both ages, we found evidence for a childhood “p” factor as well as for specific factors. Schizophrenia and attention-deficit/hyperactivity disorder (ADHD) PRS were associated with this general “p” factor at both ages but depression and autism spectrum disorder (ASD) PRS were not. We also found some evidence of associations between schizophrenia, ADHD and depression PRS with specific factors, but these were less robust and there was evidence for developmental changes.
10
Caylak, Emrah. "Biochemical and genetic analyses of childhood attention deficit/hyperactivity disorder." American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159B, no. 6 (July 23, 2012): 613–27. http://dx.doi.org/10.1002/ajmg.b.32077.
Full text
11
Velleman, Shelley L., and Carolyn B. Mervis. "Children With 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and Their Implications for Intervention." Perspectives on Language Learning and Education 18, no. 3 (October 2011): 108–16. http://dx.doi.org/10.1044/lle18.3.108.
Full textAbstract:
7q11.23 duplication syndrome is a recently documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Children with this syndrome demonstrate developmentally appropriate nonverbal pragmatic abilities in socially comfortable situations. Motor speech disorder (childhood apraxia of speech and/or dysarthria), oral apraxia, and/or phonological disorder, or symptoms of these disorders, are common, as are characteristics consistent with expressive language disorder. Intensive speech/language therapy is critical for maximizing long-term outcomes.
12
Garone, Giacomo, Federica Graziola, Melissa Grasso, and Alessandro Capuano. "Acute Movement Disorders in Childhood." Journal of Clinical Medicine 10, no. 12 (June 17, 2021): 2671. http://dx.doi.org/10.3390/jcm10122671.
Full textAbstract:
Acute-onset movement disorders (MDs) are an increasingly recognized neurological emergency in both adults and children. The spectrum of possible causes is wide, and diagnostic work-up is challenging. In their acute presentation, MDs may represent the prominent symptom or an important diagnostic clue in a broader constellation of neurological and extraneurological signs. The diagnostic approach relies on the definition of the overall clinical syndrome and on the recognition of the prominent MD phenomenology. The recognition of the underlying disorder is crucial since many causes are treatable. In this review, we summarize common and uncommon causes of acute-onset movement disorders, focusing on clinical presentation and appropriate diagnostic investigations. Both acquired (immune-mediated, infectious, vascular, toxic, metabolic) and genetic disorders causing acute MDs are reviewed, in order to provide a useful clinician’s guide to this expanding field of pediatric neurology.
13
Duggal, Priya, and William A. Petri. "Does Malnutrition Have a Genetic Component?" Annual Review of Genomics and Human Genetics 19, no. 1 (August 31, 2018): 247–62. http://dx.doi.org/10.1146/annurev-genom-083117-021340.
Full textAbstract:
Malnutrition is a complex disorder, defined by an imbalance, excess, or deficiency of nutrient intake. The visible signs of malnutrition are stunted growth and wasting, but malnourished children are also more likely to have delays in neurocognitive development, vaccine failure, and susceptibility to infection. Despite malnutrition being a major global health problem, we do not yet understand the pathogenesis of this complex disorder. Although lack of food is a major contributor to childhood malnutrition, it is not the sole cause. The mother's prenatal nutritional status, enteric infections, and intestinal inflammation also contribute to the risk of childhood malnutrition and recovery. Here, we discuss another potential risk factor, host and maternal genetics, that may play a role in the risk of malnutrition via several biological pathways. Understanding the genetic risks of malnutrition may help to identify ideal targets for intervention and treatment of malnutrition.
14
Lim, L., K. Chantiluke, A. I. Cubillo, A. B. Smith, A. Simmons, M. A. Mehta, and K. Rubia. "Disorder-specific grey matter deficits in attention deficit hyperactivity disorder relative to autism spectrum disorder." Psychological Medicine 45, no. 5 (September 17, 2014): 965–76. http://dx.doi.org/10.1017/s0033291714001974.
Full textAbstract:
Background.Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two common childhood disorders that exhibit genetic and behavioural overlap and have abnormalities in similar brain systems, in particular in frontal and cerebellar regions. This study compared the two neurodevelopmental disorders to investigate shared and disorder-specific structural brain abnormalities.Method.Forty-four predominantly medication-naïve male adolescents with ADHD, 19 medication-naïve male adolescents with ASD and 33 age-matched healthy male controls were scanned using high-resolution T1-weighted volumetric imaging in a 3-T magnetic resonance imaging (MRI) scanner. Voxel-based morphometry (VBM) was used to test for group-level differences in structural grey matter (GM) and white matter (WM) volumes.Results.There was a significant group difference in the GM of the right posterior cerebellum and left middle/superior temporal gyrus (MTG/STG). Post-hoc analyses revealed that this was due to ADHD boys having a significantly smaller right posterior cerebellar GM volume compared to healthy controls and ASD boys, who did not differ from each other. ASD boys had a larger left MTG/STG GM volume relative to healthy controls and at a more lenient threshold relative to ADHD boys.Conclusions.The study shows for the first time that the GM reduction in the cerebellum in ADHD is disorder specific relative to ASD whereas GM enlargement in the MTG/STG in ASD may be disorder specific relative to ADHD. This study is a first step towards elucidating disorder-specific structural biomarkers for these two related childhood disorders.
15
Amad, A. "New developments in the genetics of borderline personality disorder." European Psychiatry 29, S3 (November 2014): 556. http://dx.doi.org/10.1016/j.eurpsy.2014.09.362.
Full textAbstract:
ContextThe etiology of borderline personality disorder (BPD) is complex. Patients with BPD report many negative events during childhood, such as neglect, sexual abuse, and physical abuse. However, none of these antecedents is considered specific to BPD. Interestingly, a genetic vulnerability has been identified in patients with BPD, and there is a recent interest in the potential interaction between genetic and psychosocial factors (e.g., childhood abuse) in BPD.ObjectiveWe propose here a review of the current literature concerning the genetics of BPD and recommendations for future research.DiscussionHere are several explanations that may account for this lack of results. One of them may be due to the choice of candidate genes. Indeed, there is a tendency to look for genetic effects on disease rather than genetic effects on vulnerability to environmental causes of disease. We believe that such a conceptual shift may affect the choice of new candidate genes in BPD. Genes associated with the physiological response to stress in the hypothalamic–pituitary–adrenal axis are then natural candidates for gene–environment interactions research in BPD. Finally, we propose a paradigm shift, in which “plasticity” genes (rather than “vulnerability” genes) would be involved in the pathogenesis of BPD.ConclusionFamilial and twin studies largely support the potential role of a genetic vulnerability at the root of BPD, with an estimated heritability of approximately 40%. Moreover, there is evidence for both gene–environment interactions and correlations. However, association studies for BPD are sparse, making it difficult to draw clear conclusions. According to our meta-analysis, no significant associations were found.
16
Pregelj, P. "Genetics of schizophrenia and bipolar disorder." European Psychiatry 26, S2 (March 2011): 2052. http://dx.doi.org/10.1016/s0924-9338(11)73755-5.
Full textAbstract:
According to recent knowledge there are probably multiple susceptibility genes involved in patophysiology of schizophrenia and bipolar disorder, each of small effect, which act in conjunction with environmental factors. These genes could influence synaptic plasticity, neurodevelopment and neurotransmission. There are an estimated 4,000 genes involved in the complicated communication between brain cells. However, overlapping of candidate genes between both disorders was reported.Recent studies revealed that random mutations not inherited from either parent play a role in schizophrenia. The relation between psychopathological events, the phenomenology of the trauma and neurobiological changes related to schizophrenia and bipolar disorder is not totally understood.The symptoms of schizophrenia are believed to be triggered by stress-induced changes in neurobiological systems representing an inadequate adaptation of neurobiological systems to exposure to stressors. Recent studies suggest that epigenetic mechanisms may play an important role in the interplay between stress exposure and genetic vulnerability also in humans. In preclinical studies it was first suggested that epigenetic mechanisms may be involved in the modulation of gene expression in response to stressful stimuli. Recently, epigenetic differences in a neuron-specific glucocorticoid receptor (NR3C1) promoter between postmortem hippocampus obtained from suicide victims with a history of childhood abuse and those from either suicide victims with no childhood abuse or controls were found, indicating the involvement of these mechanisms in human adaptation to stress. Future research could lead to prenatal screening for both disorders, and for new, more personalized approaches to treating people depending upon their genetic profile.
17
BOLTON, DEREK, THALIA C. ELEY, THOMAS G. O'CONNOR, SEAN PERRIN, SOPHIA RABE-HESKETH, FRÜHLING RIJSDIJK, and PATRICK SMITH. "Prevalence and genetic and environmental influences on anxiety disorders in 6-year-old twins." Psychological Medicine 36, no. 3 (November 17, 2005): 335–44. http://dx.doi.org/10.1017/s0033291705006537.
Full textAbstract:
Background. Prevalence of childhood anxiety disorders at specific ages and genetic etiological influences on anxiety disorders in young children have been little studied. The present study reports prevalence estimates in a community sample of 6-year-old twins, and patterns of genetic and environmental influences on these early-onset anxiety disorders.Method. Using a two-phase design 4662 twin-pairs were sampled and 854 pairs were assessed in the second phase by maternal-informant diagnostic interview using DSM-IV criteria.Results. The most common conditions were separation anxiety disorder (SAD) [2·8%, 95% confidence interval (CI) 2·1–3·8, for current disorder] and specific phobia (10·8%, 95% CI 8·4–13·6, for current disorder). Behavioral genetic modeling was feasible for these two conditions, applied to two phenotypes: symptom syndrome (regardless of impairment) and the narrower one of diagnostic status (symptom syndrome with associated impairment). The heritability estimate for SAD diagnostic status was high, 73%, with remaining variance attributed to non-shared environment. The heritability estimates for specific phobia were also high, 80% for the symptom syndrome and 60% for diagnostic status, with remaining variance attributed in both cases to non-shared environment.Conclusions. Compared with previous epidemiological surveys of children and adolescents in wide age-bands, the current estimates suggest that rates of anxiety disorders assessed in young childhood are generally at least as high and perhaps higher compared with those found in older children. The heritability estimates suggest that the genetic effects on these early-onset anxiety disorders are substantial and more significant than environmental effects, whether shared or non-shared.
18
Rahman, Najiha, Harry Petrushkin, and Ameenat Lola Solebo. "Paediatric autoimmune and autoinflammatory conditions associated with uveitis." Therapeutic Advances in Ophthalmology 12 (January 2020): 251584142096645. http://dx.doi.org/10.1177/2515841420966451.
Full textAbstract:
Childhood uveitis comprises a collection of heterogenous ocular phenotypes which are associated with a diverse range of childhood autoimmune and autoinflammatory disorders. Of these genetic and/or acquired disorders, juvenile idiopathic arthritis is the most common, affecting 30-80% of children with uveitis. Up to a third of children with uveitis have ‘isolated’ idiopathic disease and do not have an associated systemic disease which manifests in childhood. However, uveitis may be the presenting manifestation of disease; thus, the apparently well child who presents with uveitis may have isolated idiopathic disease, but they may have an evolving systemic disorder. The diagnosis of most of the associated disorders is reliant on clinical features rather than serological or genetic investigations, necessitating detailed medical history taking and systemic examination. Adequate control of inflammation is key to good visual outcomes, and multidisciplinary care is key to good broader health outcomes.
19
Levy, Amanda M., Peristera Paschou, and Zeynep Tümer. "Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome—Where Are We?" Genes 12, no. 9 (August 26, 2021): 1321. http://dx.doi.org/10.3390/genes12091321.
Full textAbstract:
Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental and -psychiatric tic-disorder of complex etiology which is often comorbid with obsessive-compulsive disorder (OCD) and/or attention deficit hyperactivity disorder (ADHD). Twin and family studies of GTS individuals have shown a high level of heritability suggesting, that genetic risk factors play an important role in disease etiology. However, the identification of major GTS susceptibility genes has been challenging, presumably due to the complex interplay between several genetic factors and environmental influences, low penetrance of each individual factor, genetic diversity in populations, and the presence of comorbid disorders. To understand the genetic components of GTS etiopathology, we conducted an extensive review of the literature, compiling the candidate susceptibility genes identified through various genetic approaches. Even though several strong candidate genes have hitherto been identified, none of these have turned out to be major susceptibility genes yet.
20
Hsu, Chia-Jui, Lee-Chin Wong, and Wang-Tso Lee. "Immunological Dysfunction in Tourette Syndrome and Related Disorders." International Journal of Molecular Sciences 22, no. 2 (January 16, 2021): 853. http://dx.doi.org/10.3390/ijms22020853.
Full textAbstract:
Chronic tic disorder and Tourette syndrome are common childhood-onset neurological diseases. However, the pathophysiology underlying these disorders is unclear, and most studies have focused on the disinhibition of the corticostriatal–thalamocortical circuit. An autoimmune dysfunction has been proposed in the pathogenetic mechanism of Tourette syndrome and related neuropsychiatric disorders such as obsessive–compulsive disorder, autism, and attention-deficit/hyperactivity disorder. This is based on evidence from animal model studies and clinical findings. Herein, we review and give an update on the clinical characteristics, clinical evidence, and genetic studies in vitro as well as animal studies regarding immune dysfunction in Tourette syndrome.
21
Bi, Hongyan, Kaori Hojo, Masashi Watanabe, Christina Yee, Kiran Maski, Sadaf Saba, Jonathan Graff-Radford, et al. "Expanded genetic insight and clinical experience of DNMT1-complex disorder." Neurology Genetics 6, no. 4 (June 12, 2020): e456. http://dx.doi.org/10.1212/nxg.0000000000000456.
Full textAbstract:
ObjectiveTo report novel causal mutations, expanded clinical phenotypes, and clinical management of DNA methyltransferase 1 (DNMT1)-complex disorder.MethodsNeurophysiologic testing, imaging, and genetic findings were summarized in clinical context for 5 cases with DNMT1-complex disorder.ResultsWe identified 2 novel DNMT1 mutations (p.E510K and p.P1546A) by whole-exome sequencing (WES). Case 1 (p.E510K) presented with childhood ataxia, treatment-refractory seizures, and rapid cognitive decline in his 50s. Case 2 also had childhood onset and presented with seizures, language regression, hearing loss, narcolepsy with cataplexy symptoms, optic atrophy, sensory neuropathy, and hypogammaglobulinemia requiring IV immunoglobulin. Case 2 (p.P1546A) was identified with a de novo and the first mutation residing outside the targeting sequence domain. Case 3 (p.A570V) had paralytic asymmetric onset attacks triggered by emotionality and lasting sometimes for weeks. Neuropsychological testing showed executive dysfunction localizing to frontosubcortical and frontoparietal structures. He gradually developed left predominant brain atrophy. MRI showed T2 hyperintense lesions that enhanced on T1 postgadolinium images, and brain PET showed hypometabolism in atrophied regions. Case 4 (p.T497P) underwent left cochlear implant, resulting in significant hearing improvements at all tested frequencies (250–6,000 Hz). Case 5 (p.Y511H) had profound gait ataxia with posterior column atrophy of the spinal cord and abnormal evoked potentials primarily affecting the fasciculus gracilis.ConclusionsBroader application of WES further expands genotype-phenotype correlations of DNMT1-complex disorder. Two mutations are identified with early childhood onsets. The expanded new phenotypes include asymmetric brain hemiatrophy with parenchymal gadolinium enhancement, spinal cord atrophy, prolonged cataplectic spells, and hypogammaglobulinemia. Hearing loss treatment by cochlear implantation is helpful and should be considered.
22
Algahtani, Hussein, Bashair Ibrahim, Bader Shirah, Ahmad Aldarmahi, and Ahad Abdullah. "More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome." Case Reports in Medicine 2017 (2017): 1–5. http://dx.doi.org/10.1155/2017/5769837.
Full textAbstract:
Alternating hemiplegia of childhood (AHC) is a distinct clinical disorder characterized by recurrent episodes of hemiplegia, abnormal ocular movement, and progressive developmental delay. It is an extremely rare genetic disorder related to ATP1A3 gene mutations. In this paper, we present a case of AHC in which the diagnosis was missed for many years until severe hypoxic brain insult occurred from prolonged status epilepticus. Not only we are presenting an interesting clinical entity and radiological images, but also we are shedding the light on a rare genetic disease with catastrophic sequelae. The challenges in diagnosis and treatment lead to a poor outcome as seen in our case. Although early recognition and accurate diagnosis and treatment of the disease may not change the outcome, counseling of the family may change their expectation and reduce their frustration. Referral to a center with expertise in genetic disorders and access to genetic laboratories is of paramount importance in the diagnosis of this disease. Due to the rarity of this disease in Saudi Arabia, a genotype-phenotype correlation is not feasible.
23
Bourdon, Jessica L., Jeanne E. Savage, Brad Verhulst, Dever M. Carney, Melissa A. Brotman, Daniel S. Pine, Ellen Leibenluft, Roxann Roberson-Nay, and John M. Hettema. "The Genetic and Environmental Relationship Between Childhood Behavioral Inhibition and Preadolescent Anxiety." Twin Research and Human Genetics 22, no. 1 (January 30, 2019): 48–55. http://dx.doi.org/10.1017/thg.2018.73.
Full textAbstract:
AbstractThis study uses novel approaches to examine genetic and environmental influences shared between childhood behavioral inhibition (BI) and symptoms of preadolescent anxiety disorders. Three hundred and fifty-two twin pairs aged 9–13 and their mothers completed questionnaires about BI and anxiety symptoms. Biometrical twin modeling, including a direction-of-causation design, investigated genetic and environmental risk factors shared between BI and social, generalized, panic and separation anxiety. Social anxiety shared the greatest proportion of genetic (20%) and environmental (16%) variance with BI with tentative evidence for causality. Etiological factors underlying BI explained little of the risk associated with the other anxiety domains. Findings further clarify etiologic pathways between BI and anxiety disorder domains in children.
24
Ram, Ranga, Kim M. Schindler, Amy Bauer, Carlos N. Pato, and Michele T. Pato. "The Genetics of Attention-Deficit/Hyperactivity Disorder." CNS Spectrums 4, no. 5 (May 1999): 49–52. http://dx.doi.org/10.1017/s109285290001172x.
Full textAbstract:
AbstractAttention-deficit/hyperactivity disorder (ADHD) has an early childhood onset in the majority of cases. This has a considerable impact on the development of the affected individual, both directly (as a result of the symptoms) and indirectly (through the stresses imposed upon school, learning, socialization, and family life). Several lines of evidence point to a genetic component to ADHD. Family studies show a familial aggregation of ADHD, with a five- to sixfold increase in the incidence of ADHD among first-degree relatives. Twin studies reveal a higher concordance rate for ADHD among monozygotic twins compared with dizygotic twins. To date, molecular genetic research has focused on candidate genes in the dopaminergic system. Genes studied include the D2A1 allele of the dopamine D2 receptor gene, the dopamine transporter gene, and the dopamine D4 receptor gene. One of the major limitations to the study of the genetics of behavioral disorders in children has been the overlap among syndromes, including oppositional defiant disorder, conduct disorder, persistent (adult) ADHD, and bipolar disorder. Future research must address weaknesses in existing studies, including small samples sizes, restricted statistical power, and confounding factors such as comorbid illnesses, clinical heterogeneity with variable symptom severity, and unclear phenotypic boundaries.
25
Graham, Philip, and Jim Stevenson. "Temperament and Psychiatric Disorder: The Genetic Contribution to Behaviour in Childhood." Australian & New Zealand Journal of Psychiatry 21, no. 3 (September 1987): 267–74. http://dx.doi.org/10.1080/00048678709160922.
Full textAbstract:
The studies stemming from the New York longitudinal study of temperament in childhood are summarised and conceptual difficulties and problems arising from them are described. An alternative model of temperament provided by Buss and Plomin is also considered. Finally, a new typology of temperament is proposed. It is based on the suggestion that ordinary, non-pathological behaviours, in extreme form, can be viewed as manifestations of emotional disorder, hyperactivity and antisocial disorder. Empirical evidence derived both from twin studies and from epidemiological investigations is put forward to support this view.
26
Schiffman, Jason, Vijay Mittal, Emily Kline, Erik L. Mortensen, Niels Michelsen, Morten Ekstrøm, Zachary B. Millman, Sarnoff A. Mednick, and Holger J. Sørensen. "Childhood dyspraxia predicts adult-onset nonaffective–psychosis-spectrum disorder." Development and Psychopathology 27, no. 4pt1 (January 5, 2015): 1323–30. http://dx.doi.org/10.1017/s0954579414001436.
Full textAbstract:
AbstractSeveral neurological variables have been investigated as premorbid biomarkers of vulnerability for schizophrenia and other related disorders. The current study examined whether childhood dyspraxia predicted later adult nonaffective–psychosis-spectrum disorders. From a standardized neurological examination performed with children (aged 10–13) at genetic high risk of schizophrenia and controls, several measures of dyspraxia were used to create a scale composed of face/head dyspraxia, oral articulation, ideomotor dyspraxia (clumsiness), and dressing dyspraxia (n = 244). Multinomial logistic regression showed higher scores on the dyspraxia scale predict nonaffective–psychosis-spectrum disorders relative to other psychiatric disorders and no mental illness outcomes, even after controlling for genetic risk, χ2 (4, 244) = 18.61, p < .001. Findings that symptoms of dyspraxia in childhood (reflecting abnormalities spanning functionally distinct brain networks) specifically predict adult nonaffective–psychosis-spectrum disorders are consistent with a theory of abnormal connectivity, and they highlight a marked early-stage vulnerability in the pathophysiology of nonaffective–psychosis-spectrum disorders.
27
Trotta, Antonella, Marta Di Forti, Conrad lyegbe, Priscilla Green, Paola Dazzan, Valeria Mondelli, Craig Morgan, Robin M. Murray, and Helen L. Fisher. "Familial risk and childhood adversity interplay in the onset of psychosis." BJPsych Open 1, no. 1 (June 2015): 6–13. http://dx.doi.org/10.1192/bjpo.bp.115.000158.
Full textAbstract:
BackgroundThe association between childhood adversity and psychosis in adulthood is well established. However, genetic factors might confound or moderate this association.AimsUsing a catchment-based case-control sample, we explored the main effects of, and interplay between, childhood adversity and family psychiatric history on the onset of psychosis.MethodChildhood adversity (parental separation and death, physical and sexual abuse) was assessed retrospectively in 224 individuals with a first presentation of psychosis and 256 community controls from South London, UK. Occurrence of psychotic and affective disorders in first-degree relatives was ascertained with the Family Interview for Genetic Studies (FIGS).ResultsParental history of psychosis did not confound the association between childhood adversity and psychotic disorder. There was no evidence that childhood adversity and familial liability combined synergistically to increase odds of psychosis beyond the effect of each individually.ConclusionsOur results do not support the hypothesis that family psychiatric history amplifies the effect of childhood adversity on odds of psychosis.
28
Gulisano, Mariangela, Carla Domini, Maria Ferro, Paolo Curatolo, and Renata Rizzo. "The Relationship between Autism Spectrum Disorder and Tourette Syndrome in Childhood: An Overview of Shared Characteristics." Journal of Pediatric Neurology 15, no. 03 (May 2, 2017): 115–22. http://dx.doi.org/10.1055/s-0037-1602821.
Full textAbstract:
AbstractAutism spectrum disorder (ASD) and Tourette syndrome (TS) are neurodevelopmental disorders. ASD and TS are traditionally considered to be separate conditions. Nevertheless, these disorders have a high degree of overlap, and “pure” cases are rare in both clinical and population-based studies. The aim of the present review was to analyze the similarities and differences between ASD and TS on the basis of genetic and neuroradiological findings.
29
Pliszka, Steven, William W. Dodson, and Thomas J. Spencer. "Current Treatments of Attention-Deficit/Hyperactivity Disorder." CNS Spectrums 5, S3 (May 2000): s1—s8. http://dx.doi.org/10.1017/s1092852900023634.
Full textAbstract:
ABSTRACTAttention-deficit/hyperactivity disorder (ADHD) is a genetic disorder that affects both children and adults. Genetic studies have shown the heritability of ADHD to be higher than other psychiatric disorders. In addition, imaging studies have revealed various structural anomalies in the brain.Often ADHD persists into adulthood. The presentation of ADHD into adulthood most often results from childhood onset of ADHD. Symptoms of inattention and functional behavior tend to persist. These symptoms may often be less obvious, with less overt hyperactivity and impulsiveness.Stimulant medications remain the predominant choice for the treatment of ADHD. They are safe and offer good response. Common adverse reactions can usually be removed by changing the dose and the timing of medication administration. Of the second-line agents for treating ADHD, the tricyclic antidepressants have generated the most studies and have proved fairly efficacious.
30
Fryers, Tom, and Traolach Brugha. "Childhood Determinants of Adult Psychiatric Disorder." Clinical Practice & Epidemiology in Mental Health 9, no. 1 (February 22, 2013): 1–50. http://dx.doi.org/10.2174/1745017901309010001.
Full textAbstract:
The aim of this project was to assess the current evidence from longitudinal studies for childhood determinants of adult mental illness. Because of the variable and often prolonged period between factors in childhood and the identification of mental illness in adults, prospective studies, particularly birth cohorts, offer the best chance of demonstrating associations in individuals.A review was undertaken in 2006 of the published literature from longitudinal studies, together with some large-scale retrospective studies and relevant reviews which provided supplementary evidence. The main focus was upon potentially ameliorable characteristics, experiences or situations of childhood; however, other factors, not determinants but pre-cursors, associated with later mental illness could not be left out.Seven major electronic data-bases of published research were interrogated with a range of key-words and the results supplemented from personal searches, enquiries and reference trails. In excess of 1,500 abstracts were read to select 250 papers for full review. The material was assessed in relation to ten factors:Psychological disturbance; Genetic Influences; Neurological Deviance; Neuroticism; Behaviour; School Performance; Adversity; Child Abuse or Neglect; Parenting and parent-child relationships; Disrupted and Disfunctional Families.In 2011 the search was repeated for the period 2006 to mid-2011, using the same search terms and supplemented in the same manner. Over 1,800 abstracts emerged and almost 200 papers selected for more detailed review. These were then integrated into the original text with modifications where necessary. The whole text was then revised and edited in January / February 2012.There is continuing evidence for the association with later mental ill-health for each of these ten factors, but with different degrees of conviction. The evidence for each is discussed in detail and weighed both separately and in relation to others. These are then summarised, and the research implications are considered. Finally, the implications for prevention are discussed together with the practical potential for preventive and health-promoting programmes.
31
Prior, Margot R. "Biological and Neuropsychological Approaches to Childhood Autism." British Journal of Psychiatry 150, no. 1 (January 1987): 8–17. http://dx.doi.org/10.1192/bjp.150.1.8.
Full textAbstract:
There is growing conviction that childhood autism is a biologically based disorder. The evidence that has accrued in a variety of areas pertaining to biological abnormality in autism suggests that, with the possible exception of genetic factors, very few data are available that illuminate the autistic disorder specifically. Neurological models which might be useful in guiding further research are discussed and reasons for the slow progress in this important aspect of the study of autism are identified.
32
Cozman, D., R. Moldovan, and B. Nemes. "Genetic Counselling in Psychiatric Disorder with High Suicide Risk." European Psychiatry 41, S1 (April 2017): S101. http://dx.doi.org/10.1016/j.eurpsy.2017.01.313.
Full textAbstract:
IntroductionA better understanding of the genomics of mental illnesses allowed genetic counselling to be provided to individuals with severe mental illness and their families.AimThe present study was aimed at assessing the efficacy of genetic counselling for severe mental illnesses with high suicide risk.MethodAssessment was performed before and after genetic counselling session. Measures used were evaluation of traumatic events in childhood, multidimensional scale for perception of social support (SMSSP), positive and negative affect schedule (PANAS-X), Brief Psychiatric Rating Scale (BPRS), Paykel questionnaire and Genetic Counselling Outcome Scale (GCOS). Paykel's questionnaire consists of five questions about suicidal thoughts and attempts, including: life-weariness, death wishes, suicidal ideation, suicidal plans and suicide attempts. Intervention and assessment lasted approximately one and a half hour. Data from 48 patients was analysed.ResultsMean age of participants was M = 38.4, SD = 9.7, and the group was batter represented by females (57%). The participants had various diagnoses, 22% had schizophrenia, 36% bipolar disorder and 42% recurrent depressive disorder. Forty percent of participants reported suicidal ideation and 22,5% had a past history of suicide attempt. Genetic counselling had a direct positive influence upon GCOS specific items and reduced the Paykel scores among participants presenting with suicidal ideation.ConclusionGenetic counselling offers information about the disorder, the role of genetics and the impact of environmental factors. Preliminary data suggest that providing genetic counselling decreases the suicidal ideation frequency.Disclosure of interestThe authors have not supplied their declaration of competing interest.
33
Iacono, Vanessa, Leah Beaulieu, Sheilagh Hodgins, and Mark A. Ellenbogen. "Parenting practices in middle childhood mediate the relation between growing up with a parent having bipolar disorder and offspring psychopathology from childhood into early adulthood." Development and Psychopathology 30, no. 2 (September 19, 2017): 635–49. http://dx.doi.org/10.1017/s095457941700116x.
Full textAbstract:
AbstractThe offspring of parents with bipolar disorder (OBD) are at high risk for developing mental disorders. In addition to genetic factors, environmental risk is purported to be associated with these negative outcomes. However, few studies have examined this relation. Using concurrent and longitudinal data, we examined if support, structure, and control provided by parents in middle childhood mediated the relation between having a parent with or without bipolar disorder, and offspring mental health. The sample included 145 offspring (77 OBD, 68 controls) aged 4 to 14 years and their parents. Parent and teacher ratings of child behavior were collected, and diagnostic assessments were conducted in offspring 12 years later (n = 101). Bootstrapping analyses showed that low levels of structure mediated the relation between having a parent with bipolar disorder and elevated internalizing and externalizing difficulties during middle childhood. For the longitudinal outcomes, parental control emerged as the strongest mediator of the relation between parents’ bipolar disorder and offspring psychopathology. Suboptimal childrearing may have different immediate and enduring consequences on mental health outcomes in the OBD. Parental structure has robust effects on emotional and behavioral problems in middle childhood, while levels of control promote psychological adjustment in the OBD as they mature.
34
Bajaj, Preeti, Jyoti Kasture, and Balbir Singh Shah. "Gaucher's Disease - A case report." MVP Journal of Medical Sciences 2, no. 2 (December 1, 2015): 130. http://dx.doi.org/10.18311/mvpjms/2015/v2/i2/788.
Full textAbstract:
Gaucher's Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of a deficiency in lysosomal P-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common amongst the lysosomal storage disorders. GD has been categorised into three types based on the presence of central nervous involvement1. Type 1 is a non-neuronopathic form that presents in childhood or early adulthood. Type 2 is acute neuronopathic form that presents in childhood. It progresses rapidly and is fatal. Type 3 is chronic non-neuronopathic form that presents in childhood but is slowly progressive. Here we describe a case of a three and a half year old male child in whom a diagnosis of Gaucher's disease was made based on bone marrow biopsy and later confirmed by glucocerebrosidase levels estimation.
35
Martin, Neilson, Jane Scourfield, and Peter McGuffin. "Observer effects and heritability of childhood attention-deficit hyperactivity disorder symptoms." British Journal of Psychiatry 180, no. 3 (March 2002): 260–65. http://dx.doi.org/10.1192/bjp.180.3.260.
Full textAbstract:
BackgroundTwin studies have found that childhood attention-deficit hyperactivity disorder (ADHD) has a strong genetic component. Estimates of heritability the extent of non-additive genetic effects and of ‘sibling contrast’ effects vary between different studies.AimsTo use multiple informants to assess the extent to which observer effects influence such estimates in an epidemiological sample of twins.MethodQuestionnaire packs were sent to the families and teachers of twins aged 5–16 years in the Bro Taf region of South Wales. The twins were ascertained from community paediatric registers.ResultsBoth parent— and teacher-rated data showed a high degree of heritability for ADHD measured as a symptom dimension, but the correlation between the two types of rater was modest. Bivariate analyses suggested that parent and teacher ratings reflect the effects of different genes. Self-report data from twins aged 11–16 years showed no evidence of genetic effects.ConclusionsAlthough ADHD is shown to be highly heritable by both parent— and teacher-rated data, the underlying genotypes may be substantially different. This has implications for study designs aiming to find genes that contribute to the disorder.
36
Wofford, Sara, Sarah Noblin, Jessica M. Davis, Laura S. Farach, S. Shahrukh Hashmi, Pedro Mancias, and Victoria F. Wagner. "Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions." Journal of Child Neurology 34, no. 4 (January 4, 2019): 177–83. http://dx.doi.org/10.1177/0883073818821036.
Full textAbstract:
Identifying genetic diagnoses for neurologic conditions with a considerable hereditary component, such as autism spectrum disorder, intellectual disability, and epilepsy, is critical to providing proper medical management for patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. Significant variance was present between testing strategies selected by pediatric neurologists and those by geneticists and genetic counselors, supporting the need for updated genetic testing guidelines that are consistent across specialties. Pediatric neurologists also report lower confidence in ordering genetic testing and desire further education regarding genetic testing. Together, these results propose that continued integration of genetics providers, such as genetic counselors, into pediatric neurology clinics may improve utilization of genetic testing while reducing the burden on pediatric neurologists.
37
Adibsereshki, Narges, Mahdi Abdollahzadeh Rafi, Maryam Hassanzadeh Aval, and Hassan Tahan. "Looking into some of the risk factors of mental health: the mediating role of maladaptive schemas in mothers’ parenting style and child anxiety disorders." Journal of Public Mental Health 17, no. 2 (June 18, 2018): 69–78. http://dx.doi.org/10.1108/jpmh-08-2017-0028.
Full textAbstract:
PurposeAnxiety disorders have a high prevalence in children. Those children with anxious symptoms are more likely to experience significant disruption in their lives. This disruption can interrupt or even stop a child from participating in a variety of typical childhood experiences. It is understood that genetic and environmental factors may cause this disorder. The purpose of this paper is to focus on environmental factors, namely, the mediating role of maladaptive schemas in mothers’ child-rearing and childhood anxiety disorders.Design/methodology/approachThis study used correlation-modeling to assess the analysis. The sample included 326 students (aged 9-12 years old) and their mothers. The parenting style (Baumrind, 1973), Early Maladaptive Schema (Rijkeboer and de Boo, 2010), and anxiety disorders (Muriset al., 2006) questionnaires were used in this study.FindingsThe results showed a relationship between parenting styles of mothers and childhood anxiety disorders, a significant correlation between childhood maladaptive schemas and childhood anxiety disorders, a relation between child-rearing styles and childhood maladaptive schemas, and finally a mediating role on childhood anxiety disorders and mothers’ child-rearing styles for some childhood maladaptive schemas.Originality/valueThis research contributes to the knowledge base of the importance of children’s mental health. The paper analyzes the relationship of mothers’ parenting styles and children’s anxiety. It also focuses on maladaptive schemas as a mediator and its relationship with childhood anxiety disorders.
38
REISS, ALLAN L., and CHRISTOPHER C. DANT. "The behavioral neurogenetics of fragile X syndrome: Analyzing gene–brain–behavior relationships in child developmental psychopathologies." Development and Psychopathology 15, no. 4 (November 14, 2003): 927–68. http://dx.doi.org/10.1017/s0954579403000464.
Full textAbstract:
Analyzing gene–brain–behavior linkages in childhood neurodevelopmental disorders, a research approach called “behavioral neurogenetics,” has provided new insights into understanding how both genetic and environmental factors contribute to complex variations in typical and atypical human development. Research into etiologically more homogeneous disorders, such as fragile X syndrome, in particular, allows the use of more precise metrics of genetic risk so that we can more fully understand the complex pathophysiology of childhood onset neurodevelopmental disorders. In this paper, we review our laboratory's behavioral neurogenetics research by examining gene–brain–behavior relationships in fragile X syndrome, a single-gene disorder that has become a well-characterized model for studying neurodevelopmental dysfunction in childhood. Specifically, we examine genetic influences, trajectories of cognition and behavior, variation in brain structure and function, and biological and environmental factors that influence developmental and cognitive outcomes of children with fragile X. The converging approaches across these multilevel scientific domains indicate that fragile X, which arises from disruption of a single gene leading to the loss of a specific protein, is associated with a cascade of aberrations in neurodevelopment, resulting in a central nervous system that is suboptimal with respect to structure and function. In turn, structural and functional brain alterations lead to early disruption in emotion, cognition, and behavior in the child with fragile X. The combination of molecular genetics, neuroimaging, and behavioral research have advanced our understanding of the linkages between genetic variables, neurobiological measures, IQ, and behavior. Our research and that of others demonstrates that neurobehavior and neurocognition, genetics, and neuroanatomy are all different views of the same intriguing biological puzzle, a puzzle that today is rapidly emerging into a more complete picture of the intricate linkages among gene, brain, and behavior in developing children. Understanding the complex multilevel scientific perspective involved in fragile X will also contribute to our understanding of normal development by highlighting developmental events throughout the life span, thereby helping us to delineate the boundaries of pathology.
39
Mistry, Sumit, Valentina Escott-Price, Arianna D. Florio, Daniel J. Smith, and Stanley Zammit. "Genetic risk for bipolar disorder and psychopathology from childhood to early adulthood." Journal of Affective Disorders 246 (March 2019): 633–39. http://dx.doi.org/10.1016/j.jad.2018.12.091.
Full text
40
Du, Yasong, and Zhu Wen. "1.13 IDENTIFYING GENETIC SOURCE OF CHILDHOOD DISINTEGRATIVE DISORDER BY WHOLE EXOME SEQUENCING." Journal of the American Academy of Child & Adolescent Psychiatry 55, no. 10 (October 2016): S103. http://dx.doi.org/10.1016/j.jaac.2016.09.014.
Full text
41
Groth, Camilla, Liselotte Skov, Theis Lange, and Nanette M. Debes. "Predictors of the Clinical Course of Tourette Syndrome: A Longitudinal Study." Journal of Child Neurology 34, no. 14 (August 14, 2019): 913–21. http://dx.doi.org/10.1177/0883073819867245.
Full textAbstract:
Objective: Tourette syndrome (TS) is a chronic childhood neurodevelopmental disorder characterized by motor and vocal tics and frequent comorbidities. The clinical presentation of Tourette syndrome is heterogeneous and the prognosis for each individual child is difficult to define. This large prospective longitudinal study explores predictors in childhood of the clinical course of tics and comorbidities in early adulthood. Methods: The cohort was recruited at the Danish National Tourette Clinic. Data were collected at baseline (N = 314; ages, 5-19 years) and follow-up 6 years later (n = 227; ages, 11-26 years) to examine changes in the expression of tics and comorbidities. Childhood clinical factors, represented by 4 binary clinical outcomes, were selected as possible predictors of the clinical course of tics and comorbidities in early adulthood; these were tic severity and diagnoses of obsessive compulsive disorder (OCD), attention-deficit hyperactivity disorder (ADHD), and emotional disorders. Results: The strongest predictors of high tic scores, OCD, or ADHD diagnoses in early adulthood were the corresponding tic (odds ratio [OR]: 1.09), OCD (OR: 1.08), and ADHD (OR: 1.13) severity scores (per scale point) in childhood. Being female (OR: 3.94) and childhood ADHD severity (OR: 1.11) predicted future emotional disorders. Special education, genetic factors, and psychosocial factors were also predictive for the clinical course of Tourette syndrome. Conclusion: We identified strong clinical predictors of Tourette syndrome–associated outcomes in early adulthood that are directly applicable to clinical Tourette syndrome populations and may help to guide new patients, plan early interventions, and implement preventive measures.
42
Andrews, G., D. S. Pine, M. J. Hobbs, T. M. Anderson, and M. Sunderland. "Neurodevelopmental disorders: Cluster 2 of the proposed meta-structure for DSM-V and ICD-11." Psychological Medicine 39, no. 12 (October 1, 2009): 2013–23. http://dx.doi.org/10.1017/s0033291709990274.
Full textAbstract:
BackgroundDSM-IV and ICD-10 are atheoretical and largely descriptive. Although this achieves good reliability, the validity of diagnoses can be increased by an understanding of risk factors and other clinical features. In an effort to group mental disorders on this basis, five clusters have been proposed. We now consider the second cluster, namely neurodevelopmental disorders.MethodWe reviewed the literature in relation to 11 validating criteria proposed by a DSM-V Task Force Study Group.ResultsThis cluster reflects disorders of neurodevelopment rather than a ‘childhood’ disorders cluster. It comprises disorders subcategorized in DSM-IV and ICD-10 as Mental Retardation; Learning, Motor, and Communication Disorders; and Pervasive Developmental Disorders. Although these disorders seem to be heterogeneous, they share similarities on some risk and clinical factors. There is evidence of a neurodevelopmental genetic phenotype, the disorders have an early emerging and continuing course, and all have salient cognitive symptoms. Within-cluster co-morbidity also supports grouping these disorders together. Other childhood disorders currently listed in DSM-IV share similarities with the Externalizing and Emotional clusters. These include Conduct Disorder, Attention Deficit Hyperactivity Disorder and Separation Anxiety Disorder. The Tic, Eating/Feeding and Elimination disorders, and Selective Mutisms were allocated to the ‘Not Yet Assigned’ group.ConclusionNeurodevelopmental disorders meet some of the salient criteria proposed by the American Psychiatric Association (APA) to suggest a classification cluster.
43
Polho, Gabriel Berlingieri, and Vanessa De Jesus Rodrigues de Paula. "Schizophrenia: neuroinflammation, neurodegeneration or neurodevelopment? A genetic overview." Revista de Medicina 96, no. 1 (March 20, 2017): 39. http://dx.doi.org/10.11606/issn.1679-9836.v96i1p39-48.
Full textAbstract:
Schizophrenia is a devastating mental illness and its etiology is still largely unknown. Several gene mapping studies suggest that schizophrenia is a complex disorder, with a cumulative impact of variable genetic effects coupled with environmental factors. There is evidence that schizophrenia could be a neurodegenerative, neuroinflammatory or neurodevelopmental disorder. Neuropsychological data indicate neurocognitive functions are relatively stable over time after illness onset, whereas morphological data indicate a degenerative process; potential roles of neuroinflammation in the etiology of psychiatric diseases including schizophrenia have also been suggested. Recent research indicates genetic overlap between schizophrenia and syndromes in which psychopathology manifests in childhood and that are often grouped together as ‘neurodevelopmental disorders’. These findings challenge the etiological basis of current diagnostic categories and, together with evidence for frequent comorbidity, suggest that we should view the functional psychoses as members of a group that result in part from a combination of genetic and environmental effects on brain development and that are associated with specific and general impairments of cognitive function. The objective was to perform a systematic literature review of articles on genetics of schizophrenia relating to neurodegeneration, neuroinflammation and neurodevelopment. After proper filter, we included 40 studies and reviewed each finding and its relevance to the hypotheses. We can conclude that the evidence points to schizophrenia as a neurodevelopmental disease with the direct presence of factors related to neuroinflammation and neurodegeneration.
44
KENDLER, KENNETH S., and CHARLES O. GARDNER. "Twin studies of adult psychiatric and substance dependence disorders: are they biased by differences in the environmental experiences of monozygotic and dizygotic twins in childhood and adolescence?" Psychological Medicine 28, no. 3 (May 1998): 625–33. http://dx.doi.org/10.1017/s0033291798006643.
Full textAbstract:
Background. Twin studies have long been used to disentangle the role of genetic and environmental factors in the aetiology of psychiatric disorders. However, the validity of the twin method depends on the equal environment assumption – that monozygotic (MZ) and dizygotic (DZ) twins are equally correlated in their exposure to environmental factors of aetiological importance for the disorder under study.Methods. Both members of 822 female–female twin pairs from a population-based registry previously assessed for a range of psychiatric and substance use disorders were asked 12 questions assessing the similarity of their environmental experiences in childhood and adolescence. We examined whether the similarity of environmental experiences predicted concordance for psychiatric and substance abuse disorders by both a ‘pair-wise’ and ‘individual’ method utilizing logistic regression. We also examined smoking initiation, where prior evidence suggested a role for adolescent social environment.Results. Three factors were derived from these items: ‘Childhood treatment’, ‘Co-socialization’ and ‘Similitude’. Members of twin pairs agreed substantially in their recollections of these experiences. Compared with DZ twins, MZ twins reported comparable resemblance in their childhood treatment, but socialized together more frequently and reported that parents, teachers and friends more commonly emphasized their similarities. None of these three factors significantly predicted twin resemblance for major depression, generalized anxiety disorder, panic disorder, phobias, nicotine dependence or alcohol dependence. However, co-socialization significantly predicted twin resemblance for smoking initiation and perhaps for bulimia.Conclusion. Differential environmental experiences of MZ and DZ twins in childhood and adolescence are unlikely to represent a substantial bias in twin studies of most major psychiatric and substance dependence disorders but may influence twin similarity for the initiation of substance use.
45
Joyce, Peter R., Janice M. McKenzie, Roger T. Mulder, Suzanne E. Luty, Patrick F. Sullivan, Allison L. Miller, and Martin A. Kennedy. "Genetic, Developmental and Personality Correlates of Self-Mutilation in Depressed Patients." Australian & New Zealand Journal of Psychiatry 40, no. 3 (March 2006): 225–29. http://dx.doi.org/10.1080/j.1440-1614.2006.01778.x.
Full textAbstract:
Objective: To examine whether the T allele of G protein β3 (GNβ3) is associated with self-mutilation in depressed patients. Method: A history of self-mutilation was systematically inquired about when recruiting depressed patients for a long-term treatment trial. Risk factors such as borderline personality disorder and childhood abuse experiences were systematically assessed, and patients were genotyped for polymorphisms of GNβ 3. Results: The T allele of GNβ 3, borderline personality disorder and childhood sexual abuse were all significantly associated with self-mutilation in depressed patients. These associations were significant in both univariate andmultivariate analyses, and as predicted were stronger in young depressed patients than in depressed patients of all ages. Conclusions: If the association between the T allele of GNβ 3and self-mutilation can be replicated, this may provide clues to understanding the neurobiology of self-mutilation.
46
Haberstick, B. C., D. Timberlake, C. J. Hopfer, J. M. Lessem, M. A. Ehringer, and J. K. Hewitt. "Genetic and environmental contributions to retrospectively reported DSM-IV childhood attention deficit hyperactivity disorder." Psychological Medicine 38, no. 7 (September 25, 2007): 1057–66. http://dx.doi.org/10.1017/s0033291707001584.
Full textAbstract:
BackgroundA variety of methodologies and techniques converge on the notion that adults and children with attention deficit hyperactivity disorder (ADHD) have similar deficits, but there is limited knowledge about whether adult retrospective reports reflect similar genetic and environmental influences implicated in childhood ADHD.MethodDSM-IV ADHD symptoms were collected retrospectively from 3896 young adults participating in the National Longitudinal Study of Adolescent Health. Responses from this genetically informative sample of same- and opposite-sex twins and siblings were used to determine the magnitude of genetic and environmental influences. Possible gender differences in these effects were also examined. The degree of familial specificity of the genetic and environmental influences on the Inattentive and Hyperactive-Impulsive symptom dimensions was also determined.ResultsAdditive genetic effects contributed moderately to DSM-IV Inattentive, Hyperactive-Impulsive and Combined ADHD subtypes (heritability estimates of 0.30–0.38). Individual-specific influences accounted for the remaining proportion of the variance. Both genetic and individual-specific environmental effects contributed to the covariation of Inattentive and Hyperactive-Impulsive symptomologies.ConclusionsResults from our genetic analyses agree with previous findings based on self-assessment of current and retrospectively reported ADHD symptoms in adolescents and adults. Large individual-specific environmental influences as identified here suggest that current questionnaires used for retrospective diagnoses may not provide the most accurate reconstruction of the etiological influences on childhood ADHD in general population samples.
47
Goodman, Robert. "Neuronal Misconnections and Psychiatric Disorder." British Journal of Psychiatry 154, no. 3 (March 1989): 292–99. http://dx.doi.org/10.1192/bjp.154.3.292.
Full textAbstract:
Brain damage can induce anomalous neuronal connections in experimental animals, which can sometimes result in maladaptive behaviour, particularly when damage occurs early in development. Anomalous patterns of neuronal connection can also arise from genetic disorders. In humans, neuronal misconnections could be involved in a variety of psychiatric disorders. For example, they may account for the link between hyperkinesis and childhood hemiplegia, and for the link between schizophrenia and ‘alien tissue’ lesions of the temporal lobes. Predictions from misconnection hypotheses can potentially be tested in neuropathological, neurophysiological, and clinical studies.
48
Tatsiopoulou, Paraskevi, Georgia-Nektaria Porfyri, Eleni Bonti, and Ioannis Diakogiannis. "Childhood ADHD and Early-Onset Bipolar Disorder Comorbidity: A Case Report." Brain Sciences 10, no. 11 (November 20, 2020): 883. http://dx.doi.org/10.3390/brainsci10110883.
Full textAbstract:
Introduction: Recent research has highlighted an increased rate of co-morbidity between the neurodevelopmental-behavioral disorder of attention deficit hyperactivity disorder (ADHD) and a variety of psychiatric disorders, such as mood disorders or bipolar disorder (BD). The etiology and clinical course of BD are considered to be determined by both genetic and environmental factors, either aggravating or improving. Aim: This follow-up study of an adolescent aimed to clarify the co-morbidity between ADHD and BD. We also discuss the controversies surrounding the two diagnoses in younger populations and describe several aspects of concern regarding diagnosis, differential diagnosis, therapeutic planning/intervention, and prognosis. Methods: Reporting of a two-year follow-up study of a bipolar 15-year-old female patient with a previous diagnosis of ADHD during childhood. Results: Despite the occurrence of major risk factors, such as early onset and positive family history, the patient’s condition rapidly remitted with medication, without relapse and/or rehospitalization during the following two years, due to the stability of her cooperation, and support of a stable and caring familial environment. Early diagnosis of BD and differential diagnoses of ADHD are considered crucial protective factors leading to an appropriate planning of treatment. In addition, parental involvement and empathic attitude towards the patient supported the latter to cooperate and comply with the treatment, enhancing positive outcomes and stability. Conclusions: Research is required into the reliability and validity of diagnostic protocols and criteria for BD in children and adolescents, and also into the development of individualized therapeutic planning.
49
Owen, Michael J., Michael C. O'Donovan, Anita Thapar, and Nicholas Craddock. "Neurodevelopmental hypothesis of schizophrenia." British Journal of Psychiatry 198, no. 3 (March 2011): 173–75. http://dx.doi.org/10.1192/bjp.bp.110.084384.
Full textAbstract:
SummaryThe neurodevelopmental hypothesis of schizophrenia provided a valuable framework that allowed a condition that usually presents with frank disorder in adolescence or early adulthood to be understood at least in part as a consequence of events occurring early in development. However, the implications of the neurodevelopmental hypothesis for nosological conceptions of the disorder can only now be fully appreciated. Recent research indicates genetic overlap between schizophrenia and syndromes in which psychopathology is manifest in childhood and that are often grouped together as ‘neurodevelopmental disorders' such as autism-spectrum disorders, intellectual disability and attention-deficit hyperactivity disorder. These findings challenge the aetiological basis of current diagnostic categories and, together with evidence for frequent comorbidity, suggest that we should view the functional psychoses as members of a group of related and overlapping syndromes that result in part from a combination of genetic and environmental effects on brain development and that are associated with specific and general impairments of cognitive function. This has important implications for future research and for the configuration of psychiatric services.
50
Mueller, Sven C., Pamela Ng, Ninet Sinaii, Ellen W. Leschek, Liza Green-Golan, Carol VanRyzin, Monique Ernst, and Deborah P. Merke. "Psychiatric characterization of children with genetic causes of hyperandrogenism." European Journal of Endocrinology 163, no. 5 (November 2010): 801–10. http://dx.doi.org/10.1530/eje-10-0693.
Full textAbstract:
ObjectiveVery little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group.Design/methodsChildren (8–18 years) with the diagnosis of classic congenital adrenal hyperplasia (CAH) or familial male precocious puberty (FMPP) underwent a semi-structured psychiatric interview, the Kiddie Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version. According to sex and the literature, incidence of identified psychopathology was compared between the two endocrinological groups. We evaluated 72 patients: 54 CAH (21 females) and 18 FMPP.ResultsTwenty-four (44.4%) CAH patients and 10 (55.6%) FMPP patients met the criteria for at least one lifetime psychiatric diagnosis. Attention-deficit hyperactivity disorder (ADHD) was present in 18.2% of CAH males, 44.4% of FMPP males, and one case (4.8%) in CAH females. A high rate of anxiety disorders was also found in all the three groups (17–21%). Relative to females with CAH, the FMPP patients exhibited higher rates of ADHD. Age at diagnosis and the treatment modalities were not associated with psychopathology. Rates of psychiatric disorder, specifically ADHD and anxiety disorders, were higher than in the general population.ConclusionAlthough anxiety disorders may occur at an increased rate in children with chronic illness, androgens may contribute to higher risk for psychopathology in pediatric patients with genetic cause of excess androgen. Early diagnosis and treatment of childhood hyperandrogenism is essential for optimal development. The results suggest that assessment for psychiatric disorders should be part of the routine evaluation of these patients.