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Brain : a Journal of Neurology Feb 2021Developmental encephalopathies, including intellectual disability and autistic spectrum disorder, are frequently associated with infant epilepsy. Epileptic... (Review)
Review
Developmental encephalopathies, including intellectual disability and autistic spectrum disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to describe an assumed causal relationship between epilepsy and developmental delay. Developmental encephalopathies pathogenesis more independent from epilepsy is supported by the identification of several gene variants associated with both developmental encephalopathies and epilepsy, the possibility for gene-associated developmental encephalopathies without epilepsy, and the continued development of developmental encephalopathies even when seizures are controlled. Hence, 'developmental and epileptic encephalopathy' may be a more appropriate term than epileptic encephalopathy. This update considers the best studied 'developmental and epileptic encephalopathy' gene variants for illustrative support for 'developmental and epileptic encephalopathy' over epileptic encephalopathy. Moreover, the interaction between epilepsy and developmental encephalopathies is considered with respect to influence on treatment decisions. Continued research in genetic testing will increase access to clinical tests, earlier diagnosis, better application of current treatments, and potentially provide new molecular-investigated treatments.
Topics: Animals; Brain; Brain Diseases; Developmental Disabilities; Epilepsy; Humans; Neurons
PubMed: 33279965
DOI: 10.1093/brain/awaa371 -
Psychiatric Services (Washington, D.C.) Mar 2022Individuals with intellectual and developmental disabilities (IDD) are at high risk of co-occurring mental health conditions, including major depressive disorder,... (Review)
Review
Individuals with intellectual and developmental disabilities (IDD) are at high risk of co-occurring mental health conditions, including major depressive disorder, bipolar disorder, anxiety disorders, psychotic illnesses, impulse control disorders, and others. Because of symptoms associated with these illnesses and with the disabilities themselves, these individuals are often served in a mental health service system framework. However, treatment for them in these settings has typically not been sufficiently nimble, knowledgeable, or adept. Most mental health professionals receive little training about the needs of this population, and system structures typically bifurcate care, when, in reality, conditions can be complex and overlapping. In this first of two articles on care for persons with IDD in the mental health system, the authors provide a clinical overview of these neurodevelopmental disorders and of mental health and other conditions that co-occur with IDD. Considerations and challenges for treating this population in the mental health system include early recognition of mental health conditions, which often requires caregiver and family input, as well as information from a variety of additional collateral sources; the importance of trauma-informed and person-centered care; the promotion of self-determination through use of decision supports; use of approaches such as applied behavior analysis to develop a frame to address challenging behaviors; and the need to properly assess and provide thoughtful pharmacologic intervention when appropriate. The ability of individuals with IDD to thrive in a wide range of community integration opportunities depends on many factors, and clinicians must understand and use the available approaches for treating them.
Topics: Child; Depressive Disorder, Major; Developmental Disabilities; Disabled Persons; Humans; Intellectual Disability; Mental Health
PubMed: 34346730
DOI: 10.1176/appi.ps.201900504 -
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 -
Pediatrics Jan 2020Early identification and intervention for developmental disorders are critical to the well-being of children and are the responsibility of pediatric professionals as an...
Early identification and intervention for developmental disorders are critical to the well-being of children and are the responsibility of pediatric professionals as an integral function of the medical home. This report models a universal system of developmental surveillance and screening for the early identification of conditions that affect children's early and long-term development and achievement, followed by ongoing care. These conditions include autism, deafness/hard-of-hearing, intellectual and motor disabilities, behavioral conditions, and those seen in other medical conditions. Developmental surveillance is supported at every health supervision visit, as is as the administration of standardized screening tests at the 9-, 18-, and 30-month visits. Developmental concerns elicited on surveillance at any visit should be followed by standardized developmental screening testing or direct referral to intervention and specialty medical care. Special attention to surveillance is recommended at the 4- to 5-year well-child visit, prior to entry into elementary education, with screening completed if there are any concerns. Developmental surveillance includes bidirectional communication with early childhood professionals in child care, preschools, Head Start, and other programs, including home visitation and parenting, particularly around developmental screening. The identification of problems should lead to developmental and medical evaluations, diagnosis, counseling, and treatment, in addition to early developmental intervention. Children with diagnosed developmental disorders are identified as having special health care needs, with initiation of chronic condition management in the pediatric medical home.
Topics: Autism Spectrum Disorder; Child, Preschool; Chronic Disease; Developmental Disabilities; Early Intervention, Educational; Hearing Disorders; Humans; Infant; Intellectual Disability; Motor Disorders
PubMed: 31843861
DOI: 10.1542/peds.2019-3449 -
Molecular and Cellular Neurosciences Jun 2021The genetics of neurodevelopmental disorders (NDD) has made tremendous progress during the last few decades with the identification of more than 1,500 genes associated... (Review)
Review
The genetics of neurodevelopmental disorders (NDD) has made tremendous progress during the last few decades with the identification of more than 1,500 genes associated with conditions such as intellectual disability and autism. The functional roles of these genes are currently studied to uncover the biological mechanisms influencing the clinical outcome of the mutation carriers. To integrate the data, several databases and curated gene lists have been generated. Here, we provide an overview of the main databases focusing on the genetics of NDD, that are widely used by the medical and scientific communities, and extract a list of high confidence NDD genes (HC-NDD). This gene set can be used as a first filter for interpreting large scale omics dataset or for diagnostic purposes. Overall HC-NDD genes (N = 1,586) are expressed at very early stages of fetal brain development and enriched in several biological pathways such as chromosome organization, cell cycle, metabolism and synaptic function. Among those HC-NDD genes, 204 (12,9%) are listed in the synaptic gene ontology SynGO and are enriched in genes expressed after birth in the cerebellum and the cortex of the human brain. Finally, we point at several limitations regarding the relatively poor standardized information available, especially on the carriers of the mutations. Progress on the phenotypic characterization and genetic profiling of the carriers will be crucial to improve our knowledge on the biological mechanisms and on risk and protective factors for NDD.
Topics: Autistic Disorder; Databases, Genetic; Developmental Disabilities; Gene Regulatory Networks; Genetic Predisposition to Disease; Humans; Phenotype; Protein Interaction Maps
PubMed: 33932580
DOI: 10.1016/j.mcn.2021.103623 -
Radiologie (Heidelberg, Germany) May 2024
Topics: Adolescent; Child; Child, Preschool; Humans; Infant; Infant, Newborn; Developmental Disabilities
PubMed: 38689011
DOI: 10.1007/s00117-024-01292-2 -
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 -
JAMA Pediatrics Jan 2020Therapeutic hypothermia reduces risk of death and disability in infants with moderate to severe hypoxic ischemic encephalopathy (HIE). Randomized clinical trials of...
IMPORTANCE
Therapeutic hypothermia reduces risk of death and disability in infants with moderate to severe hypoxic ischemic encephalopathy (HIE). Randomized clinical trials of therapeutic hypothermia to date have not included infants with mild HIE because of a perceived good prognosis.
OBJECTIVE
To test the hypothesis that children with mild HIE have worse neurodevelopmental outcomes than their healthy peers.
DESIGN, SETTING, AND PARTICIPANTS
Analysis of pooled data from 4 prospective cohort studies in Cork, Ireland, and Stockholm, Sweden, between January 2007 and August 2015. The dates of data analysis were September 2017 to June 2019. Follow-up was performed at age 18 to 42 months. In this multicenter cohort study, all children were born or treated at the tertiary centers of Cork University Maternity Hospital, Cork, Ireland, or Karolinska University Hospital, Stockholm, Sweden. In all, 690 children were eligible for this study.
EXPOSURES
At discharge, all children were categorized into the following 5 groups using a modified Sarnat score: healthy controls, perinatal asphyxia (PA) without HIE, mild HIE, moderate HIE, and severe HIE.
MAIN OUTCOMES AND MEASURES
Cognitive, language, and motor development were assessed with the Bayley Scales of Infant and Toddler Development, Third Edition (BSITD-III). The BSITD-III scores are standardized to a mean (SD) of 100 (15), with lower scores indicating risk of developmental delay.
RESULTS
Of the 690 children eligible for this study, 2-year follow-up data were available in 471 (mean [SD] age at follow-up, 25.6 [5.7] months; 54.8% male), including 152 controls, 185 children with PA without HIE, and 134 children with HIE, of whom 14 had died. Infants with mild HIE (n = 55) had lower cognitive composite scores compared with controls, with a mean (SD) of 97.6 (11.9) vs 103.6 (14.6); the crude mean difference was -6.0 (95% CI, -9.9 to -2.1), and the adjusted mean difference was -5.2 (95% CI, -9.1 to -1.3). There was no significant difference in the mean cognitive composite scores between untreated children (n = 47) with mild HIE and surviving children with moderate HIE (n = 53) treated with therapeutic hypothermia, with a crude mean difference for mild vs moderate of -2.2 (95% CI, -8.1 to 3.7).
CONCLUSIONS AND RELEVANCE
This study's findings suggest that, at age 2 years, the cognitive composite scores of children with a history of mild HIE may be lower than those of a contemporaneous control group and may not be significantly different from those of survivors of moderate HIE treated with therapeutic hypothermia.
Topics: Child Development; Child, Preschool; Developmental Disabilities; Female; Humans; Hypothermia, Induced; Hypoxia-Ischemia, Brain; Infant; Male; Prognosis; Prospective Studies
PubMed: 31710357
DOI: 10.1001/jamapediatrics.2019.4011