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Relevant bibliographies by topics / Genetic childhood disorder

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Academic literature on the topic 'Genetic childhood disorder'

Author: Grafiati

Published: 4 June 2021

Last updated: 12 February 2022

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Journal articles on the topic "Genetic childhood disorder"

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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Dissertations / Theses on the topic "Genetic childhood disorder"

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Hodges, Matthew David. "Physical mapping of chromosal rearrangements in Beckwith-Wieddemann syndrome." Thesis, Imperial College London, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.313712.

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Larsson, Henrik. "Genetic and environmental factors in the development of externalizing symptoms from childhood to adolescence /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-524-0/.

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Tuvblad, Catherine. "Genetic and environmental influences on antisocial behavior from childhood to emerging adulthood /." Stockholm, 2006. http://diss.kib.ki.se/2006/91-7140-944-0/.

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Komulainen-Ebrahim, J. (Jonna). "Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526222356.

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Abstract Novel genetic aetiologies for epileptic encephalopathies and movement disorders have been discovered by using next-generation sequencing methods. The phenotypic and genotypic variability in these conditions is very wide. The aim of this study was to discover novel genetic causes and phenotypes of childhood-onset drug-resistant epilepsy and epileptic or developmental encephalopathies that occur separately or together with movement disorders, and familial movement disorders. Furthermore, the use of whole-exome sequencing (WES) as a diagnostic tool in clinical practice was evaluated. Altogether, 12 children with undefined aetiology, who fulfilled the inclusion criteria, were included in the study. GABRG2 gene was identified as a genetic cause of epileptic encephalopathies. Novel GABRG2-associated phenotypes included progressive neurodegeneration, epilepsy in infancy with migrating focal seizures, and autism spectrum disorder. New pathogenic variants, GABRG2 p.P282T and p.S306F, were discovered. The pathogenic NACC1 variant caused focal epilepsy, developmental disability, bilateral cataracts, and dysautonomia. The novel phenotype associated with the NACC1 p.R298W variant included hyperkinetic movement disorder. SAMD9L was found to be the genetic cause for the familial movement disorder. The phenotype associated with the novel SAMD9L p.I891T variant was very variable. Neuroradiological findings included cerebellar atrophy and periventricular white matter changes. After publication of these results, SAMD9L was reported to be one of the most common genetic aetiologies of childhood bone marrow failure and myelodysplastic syndrome. The pathogenic homozygous MTR variant was found to cause early-onset epileptic encephalopathy that occurred together with movement disorder and haematological disturbances. Drug resistant seizures responded to cofactor and vitamin treatments. Whole-exome sequencing for 10 patients with drug-resistant epilepsy or epileptic or developmental encephalopathy provided a genetic diagnosis for two patients (20%). This study confirmed that, for epileptic encephalopathies and movement disorders in which the genetic causes and phenotypes are heterogeneous and sometimes treatable, WES is a useful tool for diagnostics and in the search for novel aetiologies, which might turn out to be more common than expected
Tiivistelmä Uusien sekvensointimenetelmien käyttöönotto on mahdollistanut epileptisten enkefalopatioiden ja liikehäiriöiden uusien geneettisten syiden löytymisen. Näissä sairausryhmissä geenien ja ilmiasujen vaihtelevuus on suurta. Tutkimuksen tarkoituksena oli löytää uusia geneettisiä syitä ja ilmiasuja lapsuusiällä alkavissa vaikeahoitoisissa epilepsioissa ja epileptisissä tai kehityksellisissä joko itsenäisesti tai yhdessä liikehäiriön kanssa esiintyvissä enkefalopatioissa sekä perheittäin esiintyvissä liikehäiriöissä. Lisäksi selvitettiin eksomisekvensoinnin käyttökelpoisuutta kliinisessä diagnostiikassa näiden potilasryhmien kohdalla. Tutkimukseen osallistui yhteensä 12 sisäänottokriteerit täyttävää lasta, joiden sairauden syy oli jäänyt tuntemattomaksi. GABRG2-geenin mutaatiot aiheuttivat epileptisiä enkefalopatioita, joiden uutena ilmiasuna oli etenevä taudinkuva, johon liittyivät aivojen rappeutuminen, migroiva imeväisiän paikallisalkuinen epilepsia sekä autismikirjon häiriö. Tutkimuksessa löydettiin uusia GABRG2-mutaatioita: p.P282T ja p.S306F. NACC1-geenin mutaatio aiheutti epilepsian, kehitysvammaisuuden, molemminpuolisen kaihin ja autonomisen hermoston toiminnan häiriön. Hyperkineettinen liikehäiriö oli uusi NACC1 p.R298W -mutaatioon liittyvä ilmiasu. SAMD9L-geenin mutaatio aiheutti perheessä esiintyvän liikehäiriön. Neurologinen ja hematologinen ilmiasu olivat hyvin vaihtelevia. Aivojen kuvantamislöydöksiin sisältyi pikkuaivojen rappeutumista ja valkoisen aivoaineen muutoksia aivokammioiden ympärillä. Näiden tutkimustulosten julkaisemisen jälkeen SAMD9L-geenin mutaatioiden on todettu olevan yksi yleisimmistä perinnöllisistä luuytimen vajaatoiminnan ja myelodysplasian syistä. Homotsygoottinen MTR-geenin mutaatio aiheutti varhain alkaneen epileptisen enkefalopatian, liikehäiriön ja hematologisen häiriön. Kofaktori- ja vitamiini hoidot vähensivät epileptisiä kohtauksia, joihin tavanomainen lääkitys ei tehonnut. Geneettiset syyt ja ilmiasut ovat epileptisissä enkefalopatioissa ja liikehäiriöissä hyvin vaihtelevia, ja osaan on olemassa spesifi hoito. Eksomisekvensointi on käyttökelpoinen diagnostiikan ja uusien geneettisten syiden etsimisen apuna. Tässä tutkimuksessa eksomisekvensoinnin avulla kymmenestä potilaasta kahdelle (20%) saatiin varmistettua geneettinen diagnoosi

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Sendi, Shahbaz. "Biomarkers of major depressive disorder : a study of the interaction of genetic, neuroimaging and endocrine factors, and the effects of childhood adversity, in major depressive disorder." Thesis, King's College London (University of London), 2016. http://kclpure.kcl.ac.uk/portal/en/theses/biomarkers-of-major-depressive-disorder(743a993b-8c01-46be-8707-855dc01bc355).html.

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My thesis consisted of two studies. The first study was a part of a wider study; within this, we investigated the modulation of amygdala structure by the val66met BDNF (Brain Derived Neurotrophic Factor) polymorphism. Structural Magnetic Resonance Imaging (MRI) scans were obtained at 1.5 T in 87 Major Depressive Disorder (MDD) patients and 74 age, gender, and verbal IQ matched healthy controls. We used Freesurfer version 5.1.0 to examine the grey matter amygdala volume. In the second study, we investigated neuroendocrine abnormalities˗˗ Hypothalamus-Pituitary-Adrenal Axis (HPA) axis changes˗˗ in MDD and their relation to early life stress (ELS). In total 112 subjects took part, consisting of MDD patients with (n=28) and without (n=15) a history of ELS and healthy controls with (n=26) and without (n=43) a history of ELS. The cortisol awakening response (CAR) was used as an index of HPA axis activity. In both studies, the data were analyzed using Statistical Package for Social Science (SPSS version 22). In the first study, we did not find any modulatory effect of the val66met polymorphism on the grey matter of right and left amygdala volumes. In the second study, we showed that the CAR was most elevated in those who were both depressed and had a history of ELS, which supports the argument that the effects of early life stress and MDD on the HPA axis may be additive.

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Korvala, J. (Johanna). "In quest of genetic susceptibility to disorders manifesting in fractures:assessing the significance of genetic factors in femoral neck stress fractures and childhood non-OI primary osteoporosis." Doctoral thesis, Oulun yliopisto, 2012. http://urn.fi/urn:isbn:9789514298295.

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Abstract Osteoporosis is a bone disorder that leads to a reduction in bone volume, deterioration of bone microarchitecture and therefore increased fracture risk. Bone disorders such as osteoporosis commonly have both genetic and environmental components. Family and twin studies have shown the importance of genetics in bone formation and health, but most of the genetic factors contributing to bone formation are still largely unknown. The aim of this thesis was to search for and identify genetic factors that predispose to two different bone disorders manifesting in fractures, namely femoral neck stress fractures and childhood primary osteoporosis without features of OI (i.e. non-OI primary osteoporosis). Furthermore, in vitro studies were performed to elucidate the importance and mechanism of action of identified genetic factors in non-OI primary osteoporosis. By using candidate gene analyses we identified predisposing alleles, haplotypes and their interactions that increased the risk for femoral neck stress fractures in young male military conscripts. The conscripts lacking the CTR C allele and/or VDR C-A haplotype had a three-fold increased risk for femoral neck stress fractures compared to the carriers of both. Furthermore, conscripts carrying the LRP5 A-G-G-C haplotype had a three-fold increased risk for femoral neck stress fractures and in combination with VDR C-A haplotype a four-fold increased risk for stress fractures. These associations were mediated by low body weight and BMI. In the search for genetic factors of non-OI primary osteoporosis in children and adolescent, two novel mutations in LRP5 and two more variants in WNT3A and DKK1 were found in patients. The variants were also observed in the affected family members, but not in the control group. The effects of these variants were examined in in vitro studies and the results showed that some LRP5 mutations and the WNT3A variant might reduce bone formation by decreasing the canonical Wnt signalling activity
Tiivistelmä Osteoporoosi on luustosairaus, joka alentaa luuntiheyttä ja heikentää luun rakennetta ja siten lisää murtumien riskiä. Osteoporoosin kaltaiset luusairaudet ovat usein monitekijäisiä tauteja, joiden syntyyn vaikuttavat sekä perinnölliset että ympäristölliset tekijät. Perhe- ja kaksostutkimukset ovat osoittaneet perinnöllisten tekijöiden olevan tärkeitä luun muodostuksessa ja terveydessä, mutta nämä tekijät ovat kuitenkin vielä suurelta osin tuntemattomia. Tutkimustyön tavoitteena oli etsiä ja tunnistaa perinnöllisiä tekijöitä, jotka altistavat kahdelle luunmurtumina ilmenevälle sairaudelle: reisiluunkaulan rasitusmurtumille ja lasten primaariselle osteoporoosille. Lisäksi primaariselle osteoporoosille altistavien perinnöllisten tekijöiden merkitystä ja vaikutusmekanismeja tutkittiin in vitro- kokeilla. Reisiluunkaulan rasitusmurtumille altistavien alleelien, haplotyyppien ja näiden vuorovaikutusten tunnistamiseen käytettiin ehdokasgeenianalyysiä nuorten alokkaiden aineistossa. Potilailla, joilta CTR-geenin C-alleeli ja/tai VDR-geenin C-A haplotyyppi puuttuivat, oli kolminkertainen riski rasitusmurtumien syntyyn molempien geenimuotojen kantajiin verrattuna. Myös LRP5-geenin A-G-G-C haplotyypin kantajilla oli kolminkertainen riski rasitusmurtumiin ja VDR-geenin C-A haplotyyppi ja A-G-G-C yhdessä lähes nelinkertaistivat rasitusmurtumien riskin alokkailla. Näiden assosiaatioiden todettiin välittyvän alhaisen painon ja painoindeksin välityksellä. Lapsuudessa tai varhaisnuoruudessa puhkeavan primaarisen osteoporoosin perinnöllisten tekijöiden etsinnässä löydettiin kaksi uutta mutaatiota LRP5-geenistä ja yhteensä kaksi uutta muutosta WNT3A- ja DKK1-geeneistä. Uusien ehdokasgeenilöydösten osuutta primaarisen osteoporoosin syntyyn tukee se, että muutokset löydettiin potilaiden lisäksi heidän sairailta sukulaisiltaan eikä muutoksia havaittu kontrolliaineistoissa. Uusien mutaatioiden mahdollisia vaikutuksia tutkittiin in vitro-kokein, jotka osoittivat, että eräät LRP5-geenin mutaatiot ja WNT3A-geenin muutos alentavat kanonisen Wnt-signalointireitin aktiivisuutta ja voivat siten vähentää luunmuodostusta

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Martín, Blanco Ana. "Estudio de la interacción gen-ambiente en el Trastorno Límite de la Personalidad." Doctoral thesis, Universitat Autònoma de Barcelona, 2015. http://hdl.handle.net/10803/377754.

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Las hipótesis actuales sobre la etiopatogenia del Trastorno Límite de la Personalidad (TLP) plantean que en el desarrollo del trastorno intervendrían tanto factores genéticos como ambientales que interaccionarían entre sí. Entre los factores ambientales destacan los antecedentes de traumas en la infancia. Entre los genéticos, se han estudiado principalmente los sistemas monoaminérgicos con resultados poco concluyentes, con lo que sería interesante investigar genes relacionados con el eje hipotalámico-hipofisario-adrenal (HHA) y otros sistemas implicados en la respuesta del organismo al estrés, dado que se han descrito alteraciones en el funcionamiento de estos sistemas en relación con el TLP y con los traumas infantiles. El objetivo principal de esta tesis, por tanto, es identificar asociaciones entre variantes de genes de los sistemas de respuesta al estrés (eje HHA y sistema noradrenérgico) y el TLP, así como evaluar la posible modulación de dichas asociaciones por los antecedentes de traumas en la infancia. Los objetivos secundarios son evaluar si existe asociación entre los antecedentes de traumas infantiles y la gravedad del TLP, y si dicha asociación está mediada por los rasgos temperamentales, e investigar si los traumas infantiles y/o la gravedad del trastorno se asocian con una mayor metilación de un gen del eje HHA, el receptor de glucocorticoides (GR), en sujetos con TLP. Los resultados de este trabajo sugieren la implicación en el desarrollo del TLP de genes de estos sistemas (FKBP5, CRHR1, COMT, DBH y SLC6A2) y su modulación por la presencia de traumas en la infancia. También muestran que el haber sufrido abuso emocional en la infancia se asociaría con una mayor gravedad del TLP, principalmente en aquellos sujetos con un elevado neuroticismo. Y, por último, que tanto los antecedentes de abuso físico como una mayor gravedad del trastorno se asociarían con un aumento de la metilación del GR en individuos con TLP. Por tanto, los resultados observados apoyan la implicación de factores genéticos y ambientales tanto en la etiología del TLP como en su gravedad, y sugieren que los genes de los sistemas de respuesta al estrés, sujetos a la modulación por parte de los sucesos traumáticos en la infancia, se asociarían con el riesgo de padecer este trastorno. Además, abren las puertas a profundizar en el estudio del papel que juegan estas interacciones en el TLP y, en caso de confirmarse en muestras independientes, a diseñar estrategias terapéuticas o incluso preventivas centradas en estos factores.
Current hypotheses on the etiology of Borderline Personality Disorder (BPD) propound that both genetic and environmental factors, as well as their interaction, may be involved in its development. Among environmental factors childhood trauma stand out. Among genetic factors, however, research has been focused on monoaminergic systems and has not yet provided consistent results. Changing the focus to genes of the hypothalamus-pituitary-adrenal (HPA) axis and other systems of the organism’s stress response may be fruitful, since dysfunctions in these systems have been described in both subjects with BPD and subjects with history of childhood trauma. Therefore, the main objective of this doctoral thesis is to identify associations between BPD and polymorphisms within genes of systems involved in the stress response (HPA axis and noradrenergic system), as well as to explore the possible modulation of these associations by childhood trauma. Secondary objectives are to evaluate whether a relationship exists between childhood trauma and BPD severity, and if it is modulated by temperamental traits, as well as to investigate whether childhood trauma and/or BPD severity are associated with an increased methylation of a HPA axis’ gene, the glucocorticoid receptor (GR), in subjects with BPD. The results of this study suggest an involvement of genes of these systems (FKBP5, CRHR1, COMT, DBH y SLC6A2) in BPD development, as well as its modulation by the history of childhood trauma. They also show an association between childhood emotional abuse and BPD severity, mostly in subjects with high neuroticism. Finally, they show that both childhood physical abuse and BPD severity are associated with an increased GR methylation in subjects with BPD. In sum, our results support an involvement of genetic and environmental factors in BPD’s etiology and severity, and suggest that genes of the stress response systems may be associated with risk of BPD under the modulation of childhood trauma. They open the door to further studying the role of these interactions in BPD and, if confirmed in independent samples, to the design of therapeutic or even preventive strategies focused on these factors.

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Strauss, John. "Molecular genetic investigation of brain-derived neurotrophic factor in childhood-onset mood disorder." 2005. http://link.library.utoronto.ca/eir/EIRdetail.cfm?Resources__ID=362555&T=F.

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"Genetic Variations and Associated Electrophysiological and Behavioral Traits in Children with Childhood Apraxia of Speech." Doctoral diss., 2018. http://hdl.handle.net/2286/R.I.49384.

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abstract: Childhood Apraxia of Speech (CAS) is a severe motor speech disorder that is difficult to diagnose as there is currently no gold-standard measurement to differentiate between CAS and other speech disorders. In the present study, we investigate underlying biomarkers associated with CAS in addition to enhanced phenotyping through behavioral testing. Cortical electrophysiological measures were utilized to investigate differences in neural activation in response to native and non-native vowel contrasts between children with CAS and typically developing peers. Genetic analysis included full exome sequencing of a child with CAS and his unaffected parents in order to uncover underlying genetic variation that may be causal to the child’s severely impaired speech and language. Enhanced phenotyping was completed through extensive behavioral testing, including speech, language, reading, spelling, phonological awareness, gross/fine motor, and oral and hand motor tasks. Results from cortical electrophysiological measures are consistent with previous evidence of a heightened neural response to non-native sounds in CAS, potentially indicating over specified phonological representations in this population. Results of exome sequencing suggest multiple genetic variations contributing to the severely affected phenotype in the child and provide further evidence of heterogeneous genomic pathways associated with CAS. Finally, results of behavioral testing demonstrate significant impairments evident across tasks in CAS, suggesting underlying sequential processing deficits in multiple domains. Overall, these results have the potential to delineate functional pathways from genetic variations to the brain to observable behavioral phenotypes and motivate the development of preventative and targeted treatment approaches.
Dissertation/Thesis
Doctoral Dissertation Speech and Hearing Science 2018

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"Biomarkers of Familial Speech Sound Disorders: Genes, Perception, and Motor Control." Doctoral diss., 2020. http://hdl.handle.net/2286/R.I.63049.

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abstract: Speech sound disorders (SSDs) are the most prevalent type of communication disorder in children. Clinically, speech-language pathologists (SLPs) rely on behavioral methods for assessing and treating SSDs. Though clients typically experience improved speech outcomes as a result of therapy, there is evidence that underlying deficits may persist even in individuals who have completed treatment for surface-level speech behaviors. Advances in the field of genetics have created the opportunity to investigate the contribution of genes to human communication. Due to the heterogeneity of many communication disorders, the manner in which specific genetic changes influence neural mechanisms, and thereby behavioral phenotypes, remains largely unknown. The purpose of this study was to identify genotype-phenotype associations, along with perceptual, and motor-related biomarkers within families displaying SSDs. Five parent-child trios participated in genetic testing, and five families participated in a combination of genetic and behavioral testing to help elucidate biomarkers related to SSDs. All of the affected individuals had a history of childhood apraxia of speech (CAS) except for one family that displayed a phonological disorder. Genetic investigation yielded several genes of interest relevant for an SSD phenotype: CNTNAP2, CYFIP1, GPR56, HERC1, KIAA0556, LAMA5, LAMB1, MDGA2, MECP2, NBEA, SHANK3, TENM3, and ZNF142. All of these genes showed at least some expression in the developing brain. Gene ontology analysis yielded terms supporting a genetic influence on central nervous system development. Behavioral testing revealed evidence of a sequential processing biomarker for all individuals with CAS, with many showing deficits in sequential motor skills in addition to speech deficits. In some families, participants also showed evidence of a co-occurring perceptual processing biomarker. The family displaying a phonological phenotype showed milder sequential processing deficits compared to CAS families. Overall, this study supports the presence of a sequential processing biomarker for CAS and shows that relevant genes of interest may be influencing a CAS phenotype via sequential processing. Knowledge of these biomarkers can help strengthen precision of clinical assessment and motivate development of novel interventions for individuals with SSDs.
Dissertation/Thesis
Doctoral Dissertation Communication Disorders 2020

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Books on the topic "Genetic childhood disorder"

1

Blum, Laurie. Laurie Blum's Free money for childhood behavioral and genetic disorders. New York: Simon & Schuster, 1992.

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E, O'Flaherty Jennifer, ed. Anesthesia for genetic, metabolic, and dysmorphic syndromes of childhood. Philadelphia: Lippincott Williams & Wilkins, 1999.

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E, O'Flaherty Jennifer, ed. Anesthesia for genetic, metabolic, and dysmorphic syndromes of childhood. 2nd ed. Philadelphia, PA: Lippincott Williams & Wilkins, 2007.

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1947-, Carter Thomas P., and Willey Ann M, eds. Genetic disease: Screening and management: proceedings of the 1985 Albany Birth Defects Symposium, held in Albany, New York, September 30-October 1, 1985. New York: Liss, 1986.

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Downing, Michael. Life with sudden death: A tale of moral hazard and medical misadventure. Berkeley: Counterpoint, 2009.

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Downing, Michael. Life with sudden death: A tale of moral hazard and medical misadventure. Berkeley: Counterpoint, 2009.

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Life with sudden death: A memoir. Berkeley, CA: Counterpoint, 2009.

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Downing, Michael. Life with sudden death: A memoir. Berkeley, CA: Counterpoint, 2009.

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Strauss, John. Molecular genetic investigation of brain-derived neurotrophic factor in childhood-onset mood disorder. 2005.

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Strauss, John. Molecular genetic investigation of brain-derived neurotrophic factor in childhood-onset mood disorder. 2005.

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Book chapters on the topic "Genetic childhood disorder"

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Gangat, Mariam, and Sally Radovick. "Genetics of Hypopituitarism." In Pituitary Disorders of Childhood, 29–37. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-11339-1_2.

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Howard, Sasha, and Leo Dunkel. "Genetics of Delayed Puberty." In Pituitary Disorders of Childhood, 251–68. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-11339-1_13.

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Freitag, Christine M., Philip Asherson, and Johannes Hebebrand. "Behavioural Genetics of Childhood Disorders." In Current Topics in Behavioral Neurosciences, 395–428. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/7854_2011_178.

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Gregory, Louise C., and Mehul T. Dattani. "Embryologic and Genetic Disorders of the Pituitary Gland." In Pituitary Disorders of Childhood, 3–27. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-11339-1_1.

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Collins, Janna C. "Other Common/Treatable Childhood Genetic Liver Disorders." In Diseases of the Liver and Bile Ducts, 329–55. Totowa, NJ: Humana Press, 1998. http://dx.doi.org/10.1007/978-1-4612-1808-1_25.

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Arnold, Paul D., and Stephanie Taillefer. "Genetics of Childhood and Adolescent Anxiety." In Handbook of Child and Adolescent Anxiety Disorders, 49–73. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-1-4419-7784-7_5.

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Hall, G. W. "Cytogenetic and Molecular Genetic Aspects of Childhood Myeloproliferative/Myelodysplastic Disorders." In Chronic Myeloproliferative Disorders, 80–89. Basel: KARGER, 2002. http://dx.doi.org/10.1159/000068095.

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Bavdekar, Ashish, and Stuart Tanner. "Indian Childhood Cirrhosis and Other Metabolic Liver Diseases." In Genetic Disorders of the Indian Subcontinent, 223–43. Dordrecht: Springer Netherlands, 2004. http://dx.doi.org/10.1007/978-1-4020-2231-9_12.

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Depositario-Cabacar, Dewi Frances T., William McClintock, and Tom Reehal. "Common Genetic and Neurocutaneous Disorders in Childhood Epilepsy." In Epilepsy in Children and Adolescents, 59–72. Chichester, UK: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781119998600.ch4.

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Filges, Isabel, and Raoul I. Furlano. "The Genetics of GER and GERD." In Esophageal and Gastric Disorders in Infancy and Childhood, 835–44. Berlin, Heidelberg: Springer Berlin Heidelberg, 2017. http://dx.doi.org/10.1007/978-3-642-11202-7_71.

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