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The Lancet. Psychiatry Apr 2017Neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder, although most commonly considered in childhood, can be... (Review)
Review
Neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder, although most commonly considered in childhood, can be lifelong conditions. In this Personal View that is shaped by clinical experience and research, we adopt a conceptual approach. First, we discuss what disorders are neurodevelopmental and why such a grouping is useful. We conclude that both distinction and grouping are helpful and that it is important to take into account the strong overlap across neurodevelopmental disorders. Then we highlight some challenges in bridging research and clinical practice. We discuss the complexity of clinical phenotypes and the importance of the social context. We also argue the importance of viewing neurodevelopmental disorders as traits but highlight that this is not the only approach to use. Finally, we consider developmental change across the life-span. Overall, we argue strongly for a flexible approach in clinical practice that takes into consideration the high level of heterogeneity and overlap in neurodevelopmental disorders and for research to link more closely to what is observed in real-life practice.
Topics: Affect; Child; Cognition; Developmental Disabilities; Humans; Neurodevelopmental Disorders
PubMed: 27979720
DOI: 10.1016/S2215-0366(16)30376-5 -
Clinical Medicine (London, England) Dec 2017Global developmental delay and intellectual disability are phenotypically and genetically heterogeneous and a specific diagnosis is not reached in many cases. This paper... (Review)
Review
Global developmental delay and intellectual disability are phenotypically and genetically heterogeneous and a specific diagnosis is not reached in many cases. This paper outlines a systematic approach to global developmental delay and intellectual disability.
Topics: Developmental Disabilities; Genetic Testing; Humans; Intellectual Disability; Microarray Analysis; Phenotype
PubMed: 29196358
DOI: 10.7861/clinmedicine.17-6-558 -
Current Neurology and Neuroscience... Jun 2018Preterm birth is the leading cause of death worldwide in children < 5 years of age; however, technology and advances in medical knowledge are increasing the survival... (Review)
Review
PURPOSE OF REVIEW
Preterm birth is the leading cause of death worldwide in children < 5 years of age; however, technology and advances in medical knowledge are increasing the survival of children born even at the fringes of viability. With increased survival comes increased risk of long-term neurologic impairments. This paper aims to review recent findings related to changes in brain development associated with prematurity and its impact on neurodevelopmental disabilities.
RECENT FINDINGS
Advanced imaging techniques, longitudinal follow-up of individuals born extremely preterm into adulthood and improved understanding of risk factors associated with neurologic impairment contribute to recent discoveries. Sensory impairments are often associated with later cognitive and social impairments and therefore represent targets for therapy. All aspects of neurologic development can be affected by preterm delivery. Future research is needed to further elucidate targets for prenatal and postnatal interventions for neuroprotection and to improve outcomes of prematurity.
Topics: Adult; Animals; Child; Child, Preschool; Developmental Disabilities; Female; Gestational Age; Humans; Infant, Newborn; Nervous System Diseases; Pregnancy; Premature Birth; Risk Factors
PubMed: 29907917
DOI: 10.1007/s11910-018-0862-2 -
European Journal of Paediatric... Jan 2020The recent introduction of the term 'developmental and epileptic encephalopathy' by the International League Against Epilepsy has added another conceptual layer to... (Review)
Review
The recent introduction of the term 'developmental and epileptic encephalopathy' by the International League Against Epilepsy has added another conceptual layer to understanding the most severe group of epilepsies. An epileptic encephalopathy is defined by the presence of frequent epileptiform activity that impacts adversely on development, typically causing slowing or regression of developmental skills, and usually associated with frequent seizures. Many of the epileptic encephalopathies are now known to have an identifiable molecular genetic basis. The term 'developmental' was introduced as there are multiple facets leading to developmental impairment in affected individuals. The underlying genetic cause often results in developmental delay in its own right, with the epileptic encephalopathy further adversely affecting development. Treatment of the epileptic encephalopathy may improve developmental progress, so early recognition and active management are essential to improve developmental outcomes. Equally, understanding that the genetic aetiology independently leads to developmental impairment means that precision therapies need to be holistic in addressing the devastating consequences of this group of diseases.
Topics: Developmental Disabilities; Epileptic Syndromes; Humans
PubMed: 31926847
DOI: 10.1016/j.ejpn.2019.12.023 -
Pediatric Annals Apr 2023
Topics: Child; Humans; Developmental Disabilities
PubMed: 37036774
DOI: 10.3928/19382359-20230314-01 -
The Journal of Clinical Psychiatry Sep 2015Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental illness that can have devastating long-term consequences if untreated. Studies have shown...
Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental illness that can have devastating long-term consequences if untreated. Studies have shown that untreated individuals have worse outcomes than treated patients in academic, occupational, and social functioning; antisocial behavior; driving; substance use; and use of services. Family functioning is also highly affected by the child's ADHD and should be addressed by physicians. Recognition and management of ADHD in children is important so that their long-term outcomes can be improved. Differential diagnosis should include the possibility of comorbid psychiatric disorders and other developmental disorders. Neuropsychological testing may be valuable for both diagnosis and the assessment of treatment response.
Topics: Attention Deficit Disorder with Hyperactivity; Child; Developmental Disabilities; Humans; Neuropsychological Tests
PubMed: 26455686
DOI: 10.4088/JCP.12040vr1c -
Pediatrics Sep 2014Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic... (Review)
Review
Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology. Fragile X testing remains an important first-line test. The importance of considering testing for inborn errors of metabolism in this population is supported by a recent systematic review of the literature and several case series recently published. The role of brain MRI remains important in certain patients. There is also a discussion of the emerging literature on the use of whole-exome sequencing as a diagnostic test in this population. Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed.
Topics: Developmental Disabilities; Disability Evaluation; Female; Humans; Intellectual Disability; Karyotyping; Male
PubMed: 25157020
DOI: 10.1542/peds.2014-1839 -
Current Opinion in Neurology Apr 2015
Topics: Animals; Child; Developmental Disabilities; Humans; Research
PubMed: 25695138
DOI: 10.1097/WCO.0000000000000188 -
Neurobiology of Learning and Memory Nov 2019Intellectual and developmental disabilities (IDDs) are a common group of disorders that frequently share overlapping symptoms, including cognitive deficits, altered...
Intellectual and developmental disabilities (IDDs) are a common group of disorders that frequently share overlapping symptoms, including cognitive deficits, altered attention, seizures, impaired social interactions, and anxiety. The causes of these disorders are varied ranging from early prenatal/postnatal insults to genetic variants that either cause or are associated with an increased likelihood of an IDD. As many of the symptoms observed in individuals with IDDs are a manifestation of altered nervous system function resulting in altered behaviors, it should not be surprising that the field is very dependent upon in vivo model systems. This special issue of Neurobiology of Learning and Memory is focused on the methods and approaches that are being used to model and understand these disorders in mammals. While surveys by the Pew Foundation continue to find a high degree of confidence/trust in scientists by the public, several recent studies have documented issues with reproducibility in scientific publications. This special issue includes both primary research articles and review articles in which careful attention has been made to transparently report methods and use rigorous approaches to ensure reproducibility. Although there have been and will continue to be remarkable advances for treatment of subset of IDDs, it is clear that this field is still in its early stages. There is no doubt that the strategies being used to model IDDs will continue to evolve. We hope this special issue will support this evolution so that we can maintain the trust of the public and elected officials, and continue developing evidence-based approaches to new therapeutics.
Topics: Animals; Developmental Disabilities; Disease Models, Animal; Humans; Intellectual Disability
PubMed: 31499164
DOI: 10.1016/j.nlm.2019.107087 -
Current Opinion in Pediatrics Dec 2019Neurodevelopmental-behavioural paediatrics (NBP) is a field of medical practice that has arisen in response to recent changes in child health epidemiology. This review... (Review)
Review
PURPOSE OF REVIEW
Neurodevelopmental-behavioural paediatrics (NBP) is a field of medical practice that has arisen in response to recent changes in child health epidemiology. This review considers how the profession of NBP is addressing clinical need, and discusses possibilities for future development of the field.
RECENT FINDINGS
Research publications relevant to NBP clinical practice focus primarily on cause (e.g. biology, imaging, neuropsychology), early detection, diagnostic methodologies and initial treatment strategies, with emphasis on psychotropic medication. Translation of this research implies that NBP clinical services should be undertaken using algorithmic methodologies, and evaluated against treatment attributable outcomes. These strategies and outcomes potentially define the central purpose of the profession; however, they may not be sufficient to best help the children seen.
SUMMARY
Two sets of information inform and extend consideration of NBP purpose and strategy. Firstly, longitudinal and adult studies indicate that even with treatment, problems persist in adult life for a significant proportion of children with neurodevelopmental-behavioural disorders. Secondly, NBP clinical practice deals with significant, irreducible complexity and uncertainty, arising from both child-diagnostic and contextual factors. Complexity limits the extent to which evidence-based clinical algorithms are able to inform care. Suggestions for how to address both challenges are offered.
Topics: Adult; Behavioral Medicine; Child; Child Behavior Disorders; Developmental Disabilities; Humans; Neurodevelopmental Disorders; Neurology; Pediatrics
PubMed: 31693590
DOI: 10.1097/MOP.0000000000000819