To see the other types of publications on this topic, follow the link: Genetic childhood disorder.
Books on the topic 'Genetic childhood disorder'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 books 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 books on a wide variety of disciplines and organise your bibliography correctly.
1
Blum, Laurie. Laurie Blum's Free money for childhood behavioral and genetic disorders. New York: Simon & Schuster, 1992.
Find full text
2
E, O'Flaherty Jennifer, ed. Anesthesia for genetic, metabolic, and dysmorphic syndromes of childhood. Philadelphia: Lippincott Williams & Wilkins, 1999.
Find full text
3
E, O'Flaherty Jennifer, ed. Anesthesia for genetic, metabolic, and dysmorphic syndromes of childhood. 2nd ed. Philadelphia, PA: Lippincott Williams & Wilkins, 2007.
Find full text
4
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.
Find full text
5
Downing, Michael. Life with sudden death: A tale of moral hazard and medical misadventure. Berkeley: Counterpoint, 2009.
Find full text
6
Downing, Michael. Life with sudden death: A tale of moral hazard and medical misadventure. Berkeley: Counterpoint, 2009.
Find full text
8
Downing, Michael. Life with sudden death: A memoir. Berkeley, CA: Counterpoint, 2009.
Find full text
9
Strauss, John. Molecular genetic investigation of brain-derived neurotrophic factor in childhood-onset mood disorder. 2005.
Find full text
10
Strauss, John. Molecular genetic investigation of brain-derived neurotrophic factor in childhood-onset mood disorder. 2005.
Find full text
11
Willcutt, Erik G. ADHD and reading disorder. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0029.
Full textAbstract:
This chapter provides an overview of current knowledge regarding the frequency, implications, and aetiology of comorbidity between ADHD and reading disorder (RD), a common childhood disorder that is defined by significant underachievement in reading. Results from community studies indicate that 20–50% of individuals with ADHD also meet criteria for RD, and the presence of comorbid RD is associated with increased functional impairment and less positive long-term outcomes. Family and twin studies indicate that RD and ADHD are both significantly familial and heritable, and multivariate analyses indicate that nearly all of the phenotypic covariance between RD and ADHD is due to shared genetic influences that are associated with slower and more variable cognitive processing speed. Key future directions include studies that incorporate a broader range of measures of reading and more sophisticated neuropsychological and neuroimaging phenotypes, along with studies of the treatment implications of comorbidity between ADHD and RD.
12
Neziroglu, Fugen, and Nicole Barile. Environmental Factors in Body Dysmorphic Disorder. Edited by Katharine A. Phillips. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190254131.003.0021.
Full textAbstract:
Despite its prevalence, the etiology and pathogenesis of body dysmorphic disorder (BDD) has yet to be fully elucidated due to this disorder’s complexity. Research into causal and contributory factors has been limited, yet there is emerging evidence that environmental factors play an important role and, furthermore, that specific environmental factors may be characteristic of BDD and possibly contribute to the development and maintenance of the disorder. Sociocultural pressures to achieve physical perfection; factors such as teasing/bullying, abuse, and perceived childhood maltreatment; heighted aesthetic sensitivity; and possibly certain personality traits may all be important. Factors such as these, coupled with biologic factors that include genetic heritability and deficits in visual processing, may significantly contribute to both the development and maintenance of the disorder. More research is needed to understand the specific factors that lead to this disorder to better assist with the development of evidence-based psychological treatment.
14
Levinson, Douglas F., and Walter E. Nichols. Genetics of Depression. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0024.
Full textAbstract:
Major depressive disorder (MDD) is a common and heterogeneous complex trait. Twin heritability is 35%–40%, perhaps higher in severe/recurrent cases. Adverse life events (particularly during childhood) increase risk. Current evidence suggests some overlap in genetic factors among MDD, bipolar disorder, and schizophrenia. Large genome-wide association studies (GWAS) are now proving successful. Polygenic effects of common SNPs are substantial. Findings implicate genes with effects on synaptic development and function, including two obesity-associated genes (NEGR1 and OLFM4), but not previous “candidate genes.” It can now be expected that larger GWAS samples will produce additional associations that shed new light on MDD genetics.
15
Robinson, Elise B., Benjamin M. Neale, and Mark J. Daly. Diagnosis and Epidemiology of Pediatric Psychiatric Disorders. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0058.
Full textAbstract:
Pediatric psychiatric conditions are rising in estimated prevalence, and these disorders place an enormous burden on parents, educators, and the health care system. This rise in prevalence likely contains elements of diagnostic changes, greater awareness of these disorders, and true changes in incidence. It has been estimated that there is nearly a 50% lifetime childhood prevalence of one or more mood, anxiety, or behavioral disorders (excluding eating and substance abuse disorders) and that more than 20% of children meet the definition of severe impairment. This chapter focuses on epidemiology, heritability, and implied genetic architecture in representative pediatric neuropsychiatric conditions. We consider five major diagnostic categories and highlight major diagnosis within each, specifically, intellectual disability, pervasive developmental disorders (autism spectrum disorder [ASD]), hyperactive and inattentive behavior (attention deficit/hyperactivity disorder [ADHD]), obsessive compulsive disorder (OCD) and tic disorders (TD) (which includes Tourette Syndrome [TS] and other chronic tic disorders).
16
Morava, Eva, and Mirian C. H. Janssen. Congenital Disorders of Glycosylation. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0063.
Full textAbstract:
Congenital disorders of glycosylation (CDGs) are usually diagnosed during infancy or childhood with severe multisystem disorder and neurologic presentation. With the increasing number of surviving adult patients, recognition of the distinct adult phenotype and awareness of the diagnostic difficulties in adulthood is essential. Patients with O-glycosylation defects or with abnormal dolichol synthesis might present first in adulthood. The majority of cases with adult CDG have a neurologic disease with intellectual disability, ataxia, speech disorder, visual disturbance, and skeletal findings. Psychological abnormalities are also common. Thrombotic complications and endocrine dysfunction might persist to adulthood. MPI-CDG, the only treatable form of CDG, might progress to chronic liver failure. Genetic testing is recommended in suspected cases, since transferrin screening analysis can be normal in adults, even in N-linked glycosylation disorders.
17
Wilens, Timothy, Nicholas Carrellas, and Joseph Biederman. ADHD and substance misuse. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198739258.003.0023.
Full textAbstract:
There has been great interest in the overlap between ADHD and substance use disorder (SUD). ADHD is a common neurobehavioural disorder of childhood that places the individual at elevated risk for later SUD. Studies have shown that 25–40% of adults and adolescents with SUD have ADHD. Although the exact link between the two disorders is still unclear, it appears their connection is complex, and involves the interplay between various biological, behavioural, and genetic factors. Early pharmacotherapy of ADHD does not increase SUD, and, in fact, appears to reduce cigarette smoking and SUD. In individuals with ADHD and SUD, stabilization of SUD is recommended initially, with consideration of adjunct non-stimulant and extended release stimulant medications. More research on the mechanisms of overlap between the disorders, preventative effects of early ADHD treatment on SUD, and concurrent treatments for ADHD and SUD are necessary.
18
Autism and pervasive developmental disorders sourcebook: Basic consumer health information about autism spectrum and pervasive developmental disorders, such as classical autism, asperger syndrome, rett syndrome, and childhood disintegrative disorder, including information about related genetic disorders and medical problems and facts about causes, screening methods, diagnostic criteria, treatments and interventions, and family and education issues. Detroit, MI: Omnigraphics, 2007.
Find full text
19
James, Anthony. Depressive Disorders in Childhood and Adolescence. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198801900.003.0008.
Full textAbstract:
This chapter focuses on depressive disorders in childhood and adolescence. Depression in children and adolescents is a complex and debilitating disease, and typically has a lifelong, chronic, and recurrent course. The peak age of onset of depression is between 13 and 15 years. After providing a clinical picture of depression, this chapter discusses early childhood depression and differential diagnosis, including paediatric bipolar disorder, psychotic depression and seasonal affective disorder, oppositional and conduct disorder, and substance misuse and medical conditions. It then examines comorbidity, paying attention to bipolar disorder and suicidal behaviour, along with the assessment and prevention of depression. It also considers some of the determinants of depression, such as stress, trauma, life events, and biological factors such as genetics, brain mechanisms, hormones, and resilience. Finally, it describes treatment options for childhood and adolescent depression.
20
Bloch, Michael H. Natural History and Long-Term Outcome of OCD. Edited by Christopher Pittenger. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190228163.003.0005.
Full textAbstract:
Obsessive-compulsive disorder (OCD) is often a chronic condition. Convergent evidence suggests that early-onset and adult-onset disease are importantly distinct: early-onset OCD is more highly genetic, has a male bias, and is more often associated with tic disorders and attention deficit disorder. Adult-onset OCD has an equal male–female ratio and is more often associated with anxiety and depression. Long-term follow-up studies from before institution of effective treatments suggest that a minority of individuals with adult-onset OCD remit, and many have persistent severe symptoms. There are few analogous studies of patients with childhood-onset OCD. Prognosis has improved over the past 30 years with the development of effective, evidence-based pharmacotherapy and psychotherapies. More recent long-term follow-up studies of both adult-onset and pediatric-onset OCD suggest remission rates of up to 50%. Refractory illness nevertheless remains an important clinical problem.
21
Neurogenetic developmental disorders: Variation of manifestation in childhood. Cambridge, Mass: MIT Press, 2007.
Find full text
22
McShane, Tony, Peter Clayton, Michael Donaghy, and Robert Surtees. Neurometabolic disorders. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0213.
Full textAbstract:
Various disorders result from genetically determined abnormalities of enzymes, the metabolic consequences of which affect the development or functioning of the nervous system. The range of metabolic disturbances is wide, as is the resultant range of clinical syndromes. Although most occur in children, some can present in adult life, and increasing numbers of affected children survive into adult life. In some, specific treatments are possible or are being developed. The last 20 years has seen a considerable expansion in our understanding of the genetic and metabolic basis for many neurological conditions. Particular clinical presentations of neurometabolic disorders include ataxias, movement disorders, childhood epilepsies, or peripheral neuropathy. Detailed coverage of the entire range of inherited metabolic diseases of the nervous system is available in other texts (Brett 1997; Scriver et al. 2001; Menkes et al. 2005).Treatment is possible for some metabolic diseases. For instance, the devastating neurological effects of phenylketonuria have been recognized for many years. Neonatal screening for this disorder and dietary modification in the developed world has removed phenylketonuria from the list of important causes of serious neurological disability in children. This success has led to new challenges in the management of the adult with phenylketonuria and unexpected and devastating effect of the disorder on the unborn child of an untreated Phenylketonuria mother. More recently Biotinidase deficiency has been recognized as an important and easily treatable cause of serious neurological disease usually presenting with early onset drug resistant seizures. This and some other neurometabolic diseases can be identified on neonatal blood screening although a full range of screening is not yet routine in the United Kingdom. More disorders are likely to be picked up at an earlier asymptomatic stage as the sophistication of screening tests increases (Wilcken et al. 2003; Bodamer et al. 2007).Although individual metabolic disorders are rare, collectively such disorders are relatively common. In reality most clinicians will see an individual condition only rarely in a career. Furthermore, patients with certain rare conditions are often concentrated in specialist referral centres, further reducing the exposure of general and paediatric neurologists to these disorders. A recent study into progressive intellectual and neurological deterioration, PIND, gives some information about the relative frequency and distribution of some childhood neurodegenerative diseases in the United Kingdom (Verity et al. 2000; Devereux et al. 2004). Although primarily designed to identify any childhood cases of variant Creutzfeldt- Jakob disease, the study also provided much information about the distribution of neurometabolic disease in children in the United Kingdom. The commonest five causes of progressive intellectual and neurological deterioration over 5 years were Sanfilippo syndrome, 41 cases, adrenoleukodystrophy, 32 cases, late infantile neuronal ceroid lipofuschinosis, 32 cases, mitochondrial cytopathy, 30 cases, and Rett syndrome, 29 cases. Notably, geographical foci of these disorders were also found and correlate with high rate of consanguinity in some local populations.
23
Baum, Victor C., and Jennifer E. O'Flaherty. Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood. Lippincott Williams & Wilkins, 2015.
Find full text
24
Baum, Victor C., and Jennifer E. O'Flaherty. Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes of Childhood. 2nd ed. Lippincott Williams & Wilkins, 2006.
Find full text
25
Heitzeg, Mary M. Brain Functional Contributors to Vulnerability for Substance Abuse. Oxford University Press, 2018. http://dx.doi.org/10.1093/oso/9780190676001.003.0006.
Full textAbstract:
Substance use disorder (SUD) is one of the most significant health concerns worldwide; therefore, understanding the mechanisms that precede the onset and contribute to the escalation of substance use from childhood to adulthood is vital. Evidence suggests that behavioral undercontrol and negative affectivity are two behavioral pathways through which risk for SUD emerges across development. This chapter discusses studies that probe the neural systems underlying these behavioral phenotypes in high-risk youth from the Michigan Longitudinal Study, a prospective study of families with high levels of parental SUDs. The focus is on work that integrates behavioral trait, developmental, neurobiological, and, in some cases, genetic frameworks to develop a better understanding of the risk factors leading to SUDs.
26
Michèle M. M. Mazzocco (Editor) and Judith L. Ross (Editor), eds. Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood (Issues in Clinical and Cognitive Neuropsychology). The MIT Press, 2007.
Find full text
27
Staedtke, Verena, and Eric H. Kossoff. Epilepsy Syndromes in Childhood. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0074.
Full textAbstract:
Epilepsy syndromes of childhood are a heterogeneous group of disorders that occur at specific neurodevelopmental stages, with a variable prognosis ranging from benign to catastrophic. In clinical practice they are categorized based on seizure type, age of onset, clinical presentation, electroencephalographic (EEG) findings, as well as response to treatment. In addition, recent advancements in neuroimaging and genetic testing have become important diagnostic tools revealing underlying defects for some of these syndromes. This knowledge has consequences for clinical practice, as it opens new perspectives for early diagnosis, prognosis and treatment. Here, we provide an up-to-date overview of the most common pediatric epilepsy syndromes, their clinical findings, associated EEG findings, and clinical management.
28
De Rubeis, Silvia, Kathryn Roeder, and Bernie Devlin. Neurodevelopmental Mechanisms of Pediatric Psychiatric Disorders. Edited by Dennis S. Charney, Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.003.0062.
Full textAbstract:
The development of the human brain is a complex process that begins during the first weeks of gestation and extends at least through adolescence and early adulthood. This chapter will review the perturbations of the developmental trajectories during prenatal and early postnatal life that can lead to psychiatric disorders of childhood onset. We will provide a general view of the epochs and trajectories of brain development, from embryonic neurulation to postnatal development, with an emphasis on the development of the neocortex. Within each developmental window, we will consider some salient cellular and molecular pathways, and discuss how genetic and environmental insults underlying psychiatric disorders disrupt them.
29
Taylor, Eric. Developmental Neuropsychiatry. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780198827801.001.0001.
Full textAbstract:
Neurodevelopmental disorders are a group of conditions involving alterations of behaviour, thinking, and emotions. They have onsets in early childhood, persistence into adult life, and high rates of altered cognitive and neurological function. They are frequent reasons for referral to psychiatry, paediatrics, and clinical psychology and often require team approaches to meet a variety of needs for service. This book includes accounts of the typical development and possible pathology of key functions whose alterations can underlie problems of mental development: motor function, attention, memory, executive function, communication, social understanding and empathy, reality testing, and emotional regulation. It goes on to descriptions of frequent clinical conditions: the spectra of attention deficit hyperactivity disorder (ADHD), autism, tic disorders, coordination and learning difficulties, intellectual disability, and the psychotic disorders of young people. There are descriptions of recognition, diagnosis, prevalence, pathophysiology, and consequences for later development. These conditions very often coexist and present as dimensions rather than categorical illnesses. The effects of brain disorders on mental life are then considered, with special attention to epilepsy, cerebral palsy, hydrocephalus, acquired traumatic injury to the head, localized structural lesions, and endocrine and genetic disorders. Widely used treatments, both psychological and physical, are described in the context of their value for meeting multiple, often overlapping needs. Consequences of the conditions for individuals’ psychosocial development are described: stigma; physical illness and injury; economic disadvantage; and family, peer, and school stresses. This book is aimed at clinicians of all disciplines, clinical students, and educators encountering neuropsychiatric problems in young people.
31
Meaney, Michael J., and Rachel Yehuda. Epigenetic Mechanisms and the Risk for PTSD. Edited by Charles B. Nemeroff and Charles R. Marmar. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190259440.003.0017.
Full textAbstract:
This chapter discusses the epigenetic mechanisms involved in individual variation in and persistence of post-traumatic stress disorder (PTSD). Such mechanisms make it possible to trace vulnerability for PTSD to effects that predate development of PTSD. While some may be genetic in origin, others may involve parental stress occurring pre-conception, in utero changes in the maternal environment contributing to developmental programming, and childhood adversity, resulting in modifications of genes’ contribution to PTSD risk. The chapter discusses epigenetic alterations implicated in hypothalamic–pituitary–adrenal (HPA) function in PTSD that mark increased risk. Unlike the transient alterations in neural, endocrine, or immunological signals that follow exposure to trauma, certain epigenetic markers can be chemically stable over extended periods and can serve as a basis for understanding the persistence of PTSD symptoms. The chapter concludes with a discussion of how epigenetic modification may offer insights into future treatments for PTSD.
32
Gaitanis, John, Phillip L. Pearl, and Howard Goodkin. The EEG in Degenerative Disorders of the Central Nervous System. Edited by Donald L. Schomer and Fernando H. Lopes da Silva. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190228484.003.0013.
Full textAbstract:
Nervous system alterations can occur at any stage of prenatal or postnatal development. Any of these derangements, whether environmental or genetic, will affect electrical transmission, causing electroencephalogram (EEG) alteration and possibly epilepsy. Genetic insults may be multisystemic (for example, neurocutaneous syndromes) or affect only the brain. Gene mutations account for inborn errors of metabolism, channelopathies, brain malformations, and impaired synaptogenesis. Inborn errors of metabolism cause seizures and EEG abnormalities through a variety of mechanisms, including disrupted energy metabolism (mitochondrial disorders, glucose transporter defect), neuronal toxicity (amino and organic acidopathies), impaired neuronal function (lysosomal and peroxisomal disorders), alteration of neurotransmitter systems (nonketotic hyperglycinemia), and vitamin and co-factor dependency (pyridoxine-dependent seizures). Environmental causes of perinatal brain injury often result in motor or intellectual impairment (cerebral palsy). Multiple proposed etiologies exist for autism, many focusing on synaptic development. This chapter reviews the EEG findings associated with this myriad of pathologies occurring in childhood.
33
Genetic disease: Screening and management: Proceedings of the 1985 Albany Birth Defects Symposium, held in Albany, New York, September 30-October 1, 1985. Liss, 1986.
Find full text
34
Uffman, Joshua C. Neuronal Ceroid Lipofuscinoses (Batten Disease). Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0042.
Full textAbstract:
Neuronal ceroid lipofuscinoses (NCL) are a group of autosomal recessive genetic disorders which represent the most common form of childhood neurodegenerative disease. Classically the disease was described according to the age of diagnosis resulting in four common phenotypes: (i) infantile or Santavuori-Haltia, (ii) late infantile or Jansky-Bielschowsky, (iii) juvenile or Spielmeyer-Vogt, and (iv) adult or Kufs. With advances in genetic mutational analysis techniques and improved understanding of NCL disease as a whole, disease classification now focuses on which of the known genetic defects is responsible for the disease. Regardless of genetic defect or age of onset, patients typically present with language delay, seizures, blindness, and ataxia. The term “Batten disease” is used to refer to the group as a whole in addition to specifically referring to the juvenile form. Anesthetic implications focus on disease symptoms at presentation, with special attention to maintaining normorthermia and the possibility of bradycardia.
35
Jordan, Nerissa. Neurocutaneous syndromes. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0224.
Full textAbstract:
The neurocutaneous syndromes comprise a diverse group of rare genetic disorders with both neurological and cutaneous manifestations. Each syndrome has a distinct phenotype. Symptoms are variable and depend on the syndrome. Neurocutaneous syndromes often present in childhood or adolescence; for example, tuberous sclerosis typically presents in early childhood. The age range of presentation is broad, depending on the specific condition and severity of expression. The majority are autosomally inherited conditions. De novo mutations can occur. Most neurocutaneous syndromes do not have a specific treatment, and management is predominantly supportive and aimed at symptom reduction and appropriate monitoring. This chapter discusses neurocutaneous syndromes, including their symptoms, demographics, etiologies, natural history, complications, diagnosis, prognosis, and treatment.
36
Agras, W. Stewart, ed. The Oxford Handbook of Eating Disorders. Oxford University Press, 2010. http://dx.doi.org/10.1093/oxfordhb/9780195373622.001.0001.
Full textAbstract:
The Oxford Handbook of Eating Disorders reviews current research and clinical developments through synthetic articles written by experts from various fields of study and clinical backgrounds. Epidemiologic studies suggest that eating disorders are not only common but have increased in prevalence in recent decades, and this book refines and updates the state of research. The book is divided into four sections: phenomenology and epidemiology of the eating disorders, approaches to understanding the disorders, assessment and comorbidities of the disorders, and prevention and treatment. The first section deals with classification and epidemiology of the disorders, considerations for revisions to the Diagnostic and Statistical Manual of Mental Disorders, and the somewhat neglected topic of eating disorders in childhood and early adolescence. The second section describes research basic to understanding the eating disorders and addresses biological factors, psychosocial risk factors, cultural factors, and the effects of behaviors such as dieting and eating and weight concerns in the genesis of the eating disorders. The third section describes assessment of the eating disorders, medical and psychological comorbidities, and medical management. The final section deals with various treatment modalities that have been found successful, including psychotherapeutic and psychopharmacologic approaches; an overview of evidence-based treatment for the eating disorders; and a consideration of what we know about cost-effectiveness of existing treatments.
37
Swash, Michael. Myology. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0012.
Full textAbstract:
Diseases of muscle have become better understood by careful clinical observations, resulting in a clinically useful classification of the different groups of disorders e.g. inherited muscular dystrophies such as Duchenne muscular dystrophy, limb-girdle and metabolic myopathies, and myotonic disorders. A number of scientific approaches have determined the directions taken by this evolving classification. Understanding of the anatomy of the motor unit’s distribution in muscle transformed muscle pathology and muscle electrophysiology, and key to these pathological advances was the use of the histochemical technique for identifying myofibrillar ATPase in muscle fibres. This allowed studies of the distribution of fibre types in muscle in many different disorders. The inflammatory muscle diseases have been better understood since recent advances in immunology have characterized the underlying processes. The limb-girdle and childhood myopathies have proven to be heterogeneous, with many different, apparently causative, underlying genetic mutations.
38
Cohen, Jeffrey A., Justin J. Mowchun, Victoria H. Lawson, and Nathaniel M. Robbins. A 20-year-Old Male with Acute Lower-Extremity Weakness. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780190491901.003.0025.
Full textAbstract:
A metabolic myopathy may be an overlooked etiology of recurrent exercised-induced weakness. This chapter discusses the clinical features and diagnostic considerations for adult patients with suspected metabolic myopathy. Adult patients with carbohydrate or fatty acid disorders typically have a history since childhood of exercise-induced myalgias, cramps, and fatigue. Episodes of myoglobinuria tend to present later, usually in the second decade. For any unexplained myopathy, especially if there is concern for a metabolic myopathy, there should also be consideration of a mitochondrial disease. Many mitochondrial disorders present with multiple neurological problems, such as deafness, seizures, encephalopathy, ptosis, or ophthalmoplegia. This chapter will discuss the complexities of genetic testing and muscle biopsy for the evaluation of a possible metabolic myopathy.
39
Paris, Joel. Thinking Interactively. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190601010.003.0004.
Full textAbstract:
The human mind favors linear thinking, with single causes leading to single effects. Thinking interactively is much more difficult. Understanding mental disorders as due to chemical imbalances or abnormal neural connections is tempting. However, it is wrong to view the neural level as more “real” than measures of the mind. This kind of thinking pays lip service to psychosocial factors but loses sight of the important role that life events play in the etiology of mental disorders. In the past, psychotherapists were just as blindly linear in their thinking. They made broad generalizations, oversimplifying the role of life experiences, sometimes attributing all psychopathology to adverse events in childhood. In parallel with the reductionism of biological psychiatry, these models failed to consider the complexity of pathways from risk factors to outcomes. A more scientifically valid view is that mental disorders arise from complex interactions between genetic vulnerability and psychosocial adversity.
40
Sayer, John A. Autosomal dominant tubule-interstitial kidney disease, including medullary cystic disease. Edited by Neil Turner. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0318_update_001.
Full textAbstract:
The term medullary cystic kidney disease (MCKD) describes a group of autosomal dominantly inherited renal disorders. The term MCKD is used interchangeably with other terms, most commonly autosomal dominant interstitial kidney disease, and now may be distinguished using a molecular genetic diagnosis into at least three types. These include MCKD type 1, MCKD type 2 (also known now as uromodulin-associated kidney disease), and REN-associated kidney disease. Each of these types have phenotypic overlap but with a few distinguishing features. MCKD typically leads to end-stage renal failure between 30 and 70 years of age. Extrarenal features may include gout and childhood anaemia.
41
Lambert, Heather. Primary vesicoureteric reflux and reflux nephropathy. Edited by Adrian Woolf. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199592548.003.0355_update_001.
Full textAbstract:
Vesicoureteric reflux (VUR) describes the flow of urine from the bladder into the upper urinary tract when the ureterovesical junction fails to perform as a one-way valve. Most commonly, VUR is primary, though it can be secondary to bladder outflow obstruction and can occur in several multiorgan congenital disorders. There is good evidence of a genetic basis with a greatly increased risk of VUR in children with a family history of VUR. VUR is a congenital disorder, which largely shows improvement or complete resolution with age. Fetal VUR may be associated with parenchymal developmental defects (dysplasia). Postnatally non-infected, non-obstructed VUR does not appear to have a detrimental effect on the kidneys. However there is an association of VUR with urinary tract infection and acquired renal parenchymal defects (scarring). The parenchymal abnormalities detected on imaging, often termed reflux nephropathy, may be as a result of reflux-associated dysplasia or acquired renal scarring or both. It is difficult to distinguish between the two on routine imaging. Higher grades of VUR are associated with more severe reflux nephropathy. The precise role of VUR in pyelonephritis and scarring is not clear and it may be that VUR simply increases the risk of acute pyelonephritis. Whilst most VUR resolves during childhood, it is associated with an increased risk of urinary tract infection and burden of acute disease. Investigation strategies vary considerably, related to uncertainties about the natural history of the condition and the effectiveness of various interventions. The long-term prognosis is chiefly related to the morbidity of reflux nephropathy leading in some cases to impairment of glomerular filtration rate, hypertension, proteinuria, and pregnancy-related conditions including hypertension, pre-eclampsia, and recurrent urinary tract infection. Management is controversial and ranges from simple observation with or without provision of rapid access to diagnosis and treatment of urinary tract infections; to long-term prophylactic antibiotics or various antireflux surgical procedures.
42
Grant, Robert. Neurocutaneous syndromes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569381.003.0235.
Full textAbstract:
This chapter describes several neurocutaneous syndromes, including tuberous sclerosis, neurofibromatosis, Sturge–Weber syndrome, Von-Hippel–Lindau disease and ataxia telangiectasia amongst others.Tuberous sclerosis, also known as Epiloia or Bournville’s Disease, is an autosomal dominant multisystem disease it usually presents in childhood with a characteristic facial rash, adenoma sebaceum, seizures, and sometimes learning difficulties. Central nervous system lesions in tuberous sclerosis are due to a developmental disorder of neurogenesis and neuronal migration. Other organs such as the heart and kidney are less commonly involved. The condition has very variable clinical expression and two-thirds of cases are thought to be new mutations, therefore it is important to examine and screen relatives. Management may involve many specialists and close co-operation between specialists is essential.The neurofibromatoses are autosomal-dominant neurocutaneous disorders that can be divided into ‘peripheral’ and ‘central’ types, although there is significant overlap. The characteristic features of neurofibromatosis type 1 are café au lait spots, neurofibromas, Lisch nodules, osseous lesions, macrocephaly, short stature and mental retardation, axillary freckling, and associations with several different types of tumours.Sturge–Weber syndrome involves a characteristic ‘port-wine’ facial naevus or angioma associated with an underlying leptomeningeal angioma or other vascular anomaly. It affects approximately 1/20 000 people. There can be seizures, low IQ, and underlying cerebral hemisphere atrophy as a result of chronic state of reduced perfusion and increased oxygen extraction. Patients may present with focal seizures which are generally resistant to anticonvulsant medication and can develop glaucoma.Von-Hippel– Lindau disease is one of the most common autosomal-dominant inherited genetic diseases that are associated with familial cancers. Von-Hippel–Lindau disease is characterized by certain types of central nervous system tumours, cerebellar and spinal haemangioblastomas, and retinal angiomas, in conjunction with bilateral renal cysts carcinomas or phaechromocytoma, or pancreatic cysts/islet cell tumours (Neumann and Wiestler 1991).Other neurocutaneous syndromes discussed include Hypomelanosis of Ito, Gorlin syndrome, Sjogren–Larsson syndrome, Proteus syndrome, Hemiatrophy and hemihypertrophy, Menke’s syndrome, Xeroderma pigmentosum and Cockayne’s syndrome.
43
Post, Robert M. Depression as a Recurrent, Progressive Illness. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190603342.003.0003.
Full textAbstract:
Clinical Highlights and summary of Chapter• Episodes of depression and bipolar illness progress in two ways:faster recurrences as a function of number of prior episodes, andgreater autonomy (decreased need for precipitation by stressors(Episode Sensitization)• Recurrent stressors result in increased reactivity to subsequent stressors(Stress sensitization) and bouts of stimulant abuse increase in severity with repetition(Stimulant-induced behavioral sensitization)• Each type of sensitization cross-sensitizes to the others and drives illness progression• Each type of sensitization involves specific memory-like epigenetic processes as well as nonspecific cellular toxicities• Childhood onset depression and bipolar illness have a more adverse course than adult onset illness and are increasing in incidence via a cohort (year of birth) effect• As opposed to genetic vulnerability, each type of sensitization can be prevented with appropriate clinical intervention and prevention, which should lessen illness severity and progression• Seeing depression and bipolar disorder as progressive illnesses changes the therapeutic emphasis away from acute treatment and instead to long term prophylaxis• Preventing recurrent depressions will likely protect the brain, the body, and the personWord count with Named refs = 6,417>Depression and bipolar disorder are illnesses which tend to progress with each new recurrence. Stressors, mood episodes, and bouts of substance abuse each sensitize (show increased reactivity) upon their repetition and cross-sensitization to the others. These sensitization processes appear to have a memory-like and epigenetic basis, in some instances conveying lifelong increased vulnerability to illness recurrence and progression. Greater numbers of episodes are associated with faster recurrences, lesser need for stress precipitation, cognitive dysfunction, pathological changes in brain, treatment refractoriness, and loss of many years of life expectancy, predominantly from cardiovascular disease. Such a perspective emphasizes the need for greater awareness of higher incidence of psychiatric and medical comorbidities in the United States compared to many European countries, and the need for earlier intervention and more sustained long term prophylaxis to prevent illness progression and its adverse consequences on brain and body.
44
Charney, Dennis S., Eric J. Nestler, Pamela Sklar, and Joseph D. Buxbaum, eds. Charney & Nestler's Neurobiology of Mental Illness. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190681425.001.0001.
Full textAbstract:
In the years following publication of the DSM-5, the field of psychiatry has seen vigorous debate between the DSM’s more traditional, diagnosis-oriented approach and the NIMH’s more biological, dimension-based RDoC approach. Charney & Nestler’s Neurobiology of Mental Illness is an authoritative foundation for translating information from the laboratory to clinical treatment, and this edition extends beyond its reference function to acknowledge and examine the controversies and thoughts on the future of psychiatric diagnosis. In this wider context, this book provides information from numerous levels of analysis including molecular biology and genetics, cellular physiology, neuroanatomy, neuropharmacology, epidemiology, and behavior. Section I, which reviews the methods used to examine the biological basis of mental illness in animal and cell models and in humans, has been expanded to reflect important technical advances in complex genetics, epigenetics, stem cell biology, optogenetics, neural circuit functioning, cognitive neuroscience, and brain imaging. These established and emerging methodologies offer groundbreaking advances in our ability to study the brain and breakthroughs in our therapeutic toolkit. Sections II through VII cover the neurobiology and genetics of major psychiatric disorders: psychoses, mood disorders, anxiety disorders, substance use disorders, dementias, and disorders of childhood onset. Also covered within these sections is a summary of current therapeutic approaches for these illnesses as well as the ways in which research advances are now guiding the search for new treatments. The last section, Section VIII, focuses on diagnostic schemes for mental illness. This includes an overview of the unique challenges that remain in diagnosing these disorders given our still limited knowledge of disease etiology and pathophysiology. The section then provides reviews of DSM-5 and RDoC. Also included are chapters on future efforts toward precision and computational psychiatry, which promise to someday align diagnosis with underlying biological abnormalities.
45
Rapoport, Judith L. Childhood Onset of "Adult" Psychopathology: Clinical and Research Advances (American Psychopathological Association Series). American Psychiatric Publishing, Inc., 2000.
Find full text
46
Bargiotas, Theodoros. The Aetiology of Depression. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780198801900.003.0005.
Full textAbstract:
This chapter discusses the aetiology of depression. It begins with an overview of reasons why the aetiology of depression has been and still is difficult to define, including its heterogeneity and the wider philosophical and methodological challenges involved. It then considers life events and social determinants of depression as well as psychological factors relevant to depression, including childhood development and early experiences, parenting style, and personality and personality disorders. It also examines cognitive behavioural theories of depression, neuropsychology, and psychodynamic theories, along with the role of unconscious processes and ego psychology in the aetiology of depression. Finally, the chapter describes the biological determinants of depression, paying attention to genetics, neurochemical changes in the brain, and stress and thyroid hormones.
47
Childhood onset of "adult" psychopathology: Clinical and research advances. Washington, DC: American Psychiatric Press, 2000.
Find full text
48
Gipson, Tanjala T., and Michael V. Johnston. Overview of Autism and Intellectual Disabilities. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0049.
Full textAbstract:
Autism spectrum disorders (ASD) and intellectual disabilities (ID) are prevalent causes of brain dysfunction in childhood and they have a significant public health impact on quality of life and the ability to live independently. ID is defined by the presence of an intelligence quotient less than 70 on a standardized test combined with impaired adaptive skills of daily living, whereas autism is defined by a combination of impaired language and social skills as well as the presence of stereotyped movements or behaviors. The prevalence of ID is estimated to be 1/100 population, with higher numbers in low resource countries, whereas the prevalence of autism is estimated to be 1 in 68, 1/42 boys and 1/189 girls. Approximately 70% of individuals with autism also meet the criteria for ID, but ID is not necessary for the diagnosis of autism. Genetic disorders are an important cause of autism, and 80% of identical twins will share autism if it is present in one twin, whereas the rate of concurrence in fraternal twins is 30%. This overview describes some general features of the causation and neurobiology of ID and ASD that are discussed in more detail in the chapters on specific pediatric disorders later in this section.
49
Neri, Giovanni, Luigi Boccuto, and Roger E. Stevenson, eds. Overgrowth Syndromes. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780190944896.001.0001.
Full textAbstract:
This book provides comprehensive details on a number of well-defined genetic disorders and a selection of less well-defined entities that include somatic overgrowth as a major manifestation. In addition to overgrowth, these syndromes each have their own distinguishing characteristics that benefit the clinician in making a specific diagnosis. In most cases, the causative genes are known, giving a means of laboratory confirmation of the diagnoses. A major distinction from other hereditary syndromes is a predisposition of patients with the overgrowth syndromes to develop neoplasms during childhood. In some cases, the overgrowth seems to be limited, even to the extent that some growth parameters may return to the normal range by adulthood. In other cases, the overgrowth is notable throughout life. In recent years, both the generalized and the segmental overgrowth syndromes have begun to yield their secrets to molecular technologies. These studies have provided clinicians a way to confirm the specific diagnosis so they can provide appropriate counseling and anticipatory management. In the case of segmental overgrowth disorders, they have also established their mosaic nature, which explains the sporadic occurrence and marked phenotype variability.
50
Widiger, Thomas A. Introduction. Edited by Thomas A. Widiger. Oxford University Press, 2016. http://dx.doi.org/10.1093/oxfordhb/9780199352487.013.9.
Full textAbstract:
This book concerns the Five Factor Model (FFM) of general personality structure. It brings together much of the research literature on the FFM and demonstrates its potential applications across a wide range of disciplines and concerns. The book is organized into four sections: the first section explores the FFM and its domains, the second focuses on matters and issues concerning the construct validity of the FFM, the third discusses applications of the FFM to a variety of social and clinical issues, and the fourth summarizes the book’s interesting points and considers potential implications. Topics range from Neuroticism and Extraversion to Openness, Agreeableness, and Conscientiousness. The book also considers the universality of the FFM, the factor analytic support, childhood temperament and personality, animal personality, behavior and molecular genetics, personality neuroscience, personality disorders, adult psychopathology, and child psychopathology.