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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 -
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 -
Singapore Medical Journal Mar 2019Developmental delays are common in childhood, occurring in 10%-15% of preschool children. Global developmental delays are less common, occurring in 1%-3% of preschool...
Developmental delays are common in childhood, occurring in 10%-15% of preschool children. Global developmental delays are less common, occurring in 1%-3% of preschool children. Developmental delays are identified during routine checks by the primary care physician or when the parent or preschool raises concerns. Assessment for developmental delay in primary care settings should include a general and systemic examination, including plotting growth centiles, hearing and vision assessment, baseline blood tests if deemed necessary, referral to a developmental paediatrician, and counselling the parents. It is important to follow up with the parents at the earliest opportunity to ensure that the referral has been activated. For children with mild developmental delays, in the absence of any red flags for development and no abnormal findings on clinical examination, advice on appropriate stimulation activities can be provided and a review conducted in three months' time.
Topics: Child; Child, Preschool; Developmental Disabilities; Female; Humans; Male; Mass Screening; Parents; Pediatrics; Physical Examination; Physician-Patient Relations; Primary Health Care; Referral and Consultation; Singapore
PubMed: 30997518
DOI: 10.11622/smedj.2019025 -
Pediatric Annals Apr 2023
Topics: Child; Humans; Developmental Disabilities
PubMed: 37036774
DOI: 10.3928/19382359-20230314-01 -
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 -
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 -
Current Opinion in Neurology Apr 2015
Topics: Animals; Child; Developmental Disabilities; Humans; Research
PubMed: 25695138
DOI: 10.1097/WCO.0000000000000188 -
Canadian Family Physician Medecin de... Apr 2019
Topics: Adult; Aged; Aging; Developmental Disabilities; Disabled Persons; Family Practice; Female; Health Services for Persons with Disabilities; Health Services for the Aged; Humans; Intellectual Disability; Male; Middle Aged; Physician's Role; Physicians, Family
PubMed: 31023768
DOI: No ID Found -
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 -
Pediatrics Feb 2021Pica, the repeated ingestion of nonfood items, can be life-threatening. Although case reports describe pica in children with autism spectrum disorder (ASD) or...
BACKGROUND AND OBJECTIVES
Pica, the repeated ingestion of nonfood items, can be life-threatening. Although case reports describe pica in children with autism spectrum disorder (ASD) or intellectual disability (ID), there has been little systematic study of pica prevalence. We assessed pica in children 30 to 68 months of age (median = 55.4 months) with and without ASD.
METHODS
Our sample from the Study to Explore Early Development, a multisite case-control study, included children with ASD ( = 1426), children with other developmental disabilities (DDs) ( = 1735), and general population-based controls (POPs) ( = 1578). We subdivided the ASD group according to whether children had ID and the DD group according to whether they had ID and/or some ASD characteristics. Standardized developmental assessments and/or questionnaires were used to define final study groups, subgroups, and pica. We examined pica prevalence in each group and compared ASD and DD groups and subgroups to the POP group using prevalence ratios adjusted for sociodemographic factors.
RESULTS
Compared with the prevalence of pica among POPs (3.5%), pica was higher in children with ASD (23.2%) and DD (8.4%), and in the following subgroups: ASD with ID (28.1%), ASD without ID (14.0%), DD with ID (9.7%), DD with ASD characteristics (12.0%), and DD with both ID and ASD characteristics (26.3%); however, pica prevalence was not elevated in children with DD with neither ID nor ASD characteristics (3.2%). Between-group differences remained after adjustment (adjusted prevalence ratio range 1.9-8.0, all <.05).
CONCLUSIONS
Pica may be common in young children with ASD, ASD characteristics, and ID. These findings inform the specialized health care needs of these children.
Topics: Adult; Autism Spectrum Disorder; Case-Control Studies; Child, Preschool; Developmental Disabilities; Female; Humans; Intellectual Disability; Male; Pica; Young Adult
PubMed: 33408069
DOI: 10.1542/peds.2020-0462