Review

Authors: Pradeep Vasudevan, Mohnish Suri

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

Review

Authors: Philippe Grandjean, Philip J Landrigan

Neurodevelopmental disabilities, including autism, attention-deficit hyperactivity disorder, dyslexia, and other cognitive impairments, affect millions of children worldwide, and some diagnoses seem to be increasing in frequency. Industrial chemicals that injure the developing brain are among the known causes for this rise in prevalence. In 2006, we did a systematic review and identified five industrial chemicals as developmental neurotoxicants: lead, methylmercury, polychlorinated biphenyls, arsenic, and toluene. Since 2006, epidemiological studies have documented six additional developmental neurotoxicants-manganese, fluoride, chlorpyrifos, dichlorodiphenyltrichloroethane, tetrachloroethylene, and the polybrominated diphenyl ethers. We postulate that even more neurotoxicants remain undiscovered. To control the pandemic of developmental neurotoxicity, we propose a global prevention strategy. Untested chemicals should not be presumed to be safe to brain development, and chemicals in existing use and all new chemicals must therefore be tested for developmental neurotoxicity. To coordinate these efforts and to accelerate translation of science into prevention, we propose the urgent formation of a new international clearinghouse.

Topics: Animals; Brain; Developmental Disabilities; Environmental Exposure; Humans; Methylmercury Compounds; Neurotoxicity Syndromes; Polychlorinated Biphenyls

PubMed: 24556010
DOI: 10.1016/S1474-4422(13)70278-3

Authors: Joseph R Hageman, Lolita Alcocer Alkureishi

Topics: Child; Humans; Developmental Disabilities

PubMed: 37036774
DOI: 10.3928/19382359-20230314-01

Review

Authors: John B Moeschler, Michael Shevell, ...

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

Authors: Mary K Colvin, Theodore A Stern

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

Review

Authors: Joseph J Volpe

Brain injury in premature infants is of enormous public health importance because of the large number of such infants who survive with serious neurodevelopmental disability, including major cognitive deficits and motor disability. This type of brain injury is generally thought to consist primarily of periventricular leukomalacia (PVL), a distinctive form of cerebral white matter injury. Important new work shows that PVL is frequently accompanied by neuronal/axonal disease, affecting the cerebral white matter, thalamus, basal ganglia, cerebral cortex, brain stem, and cerebellum. This constellation of PVL and neuronal/axonal disease is sufficiently distinctive to be termed "encephalopathy of prematurity". The thesis of this Review is that the encephalopathy of prematurity is a complex amalgam of primary destructive disease and secondary maturational and trophic disturbances. This Review integrates the fascinating confluence of new insights into both brain injury and brain development during the human premature period.

Topics: Axons; Brain; Brain Injuries; Developmental Disabilities; Humans; Infant, Newborn; Infant, Premature; Leukomalacia, Periventricular; Neurons

PubMed: 19081519
DOI: 10.1016/S1474-4422(08)70294-1

Authors: Dagmara Dimitriou, Gianluca Esposito

Topics: COVID-19; Child; Developmental Disabilities; Humans; Intellectual Disability; Pandemics; Social Support

PubMed: 35358826
DOI: 10.1016/j.ridd.2022.104228

Authors: Karen Spruyt, Jian-Sheng Lin

Topics: Developmental Disabilities; Diagnostic Errors; Humans; Sleep

PubMed: 27779373
DOI: 10.1111/cns.12657

Authors: Anna Oblacińska

Topics: Adult; Breast Feeding; Developmental Disabilities; Female; Genetic Predisposition to Disease; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Mother-Child Relations; Periodicals as Topic

PubMed: 33930263
DOI: 10.34763/jmotherandchild.20202403.edit.03_2020

Authors: Sarah Lineberry, Matthew Bogenschutz, Michael Broda...

People with intellectual and developmental disabilities (IDD) have higher incidences of mental health conditions and behavioral support needs than people without IDD but may not receive needed care from community providers. We examined rates of co-occurring conditions in a representative sample of adults with IDD who use state funded services in Virginia. Using data from two datasets, we identified four categories of mental health and behavioral conditions. We used these categories to examine differences in individual- and system-level factors in people with and without co-occurring conditions. We found high rates of co-occurring conditions in our sample. We found important disability factors and system-level characteristics that were associated with having a diagnosed mental health condition or behavioral support needs. Differing patterns of diagnosis and treatment for co-occurring conditions suggests more work needs to be done to support people with IDD and co-occurring mental health conditions living in the community.

Topics: Adult; Humans; Child; Developmental Disabilities; Intellectual Disability; Mental Health; Virginia

PubMed: 36739327
DOI: 10.1007/s10597-023-01091-4