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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 -
The Lancet. Neurology Mar 2014Neurodevelopmental disabilities, including autism, attention-deficit hyperactivity disorder, dyslexia, and other cognitive impairments, affect millions of children... (Review)
Review
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 -
Pediatric Annals Apr 2023
Topics: Child; Humans; Developmental Disabilities
PubMed: 37036774
DOI: 10.3928/19382359-20230314-01 -
The Lancet. Neurology Jan 2009Brain injury in premature infants is of enormous public health importance because of the large number of such infants who survive with serious neurodevelopmental... (Review)
Review
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 -
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 -
Cleveland Clinic Journal of Medicine Nov 2015Screening and surveillance are crucial components to the early detection of developmental disorders in children, which enables early interventions that provide the best... (Review)
Review
Screening and surveillance are crucial components to the early detection of developmental disorders in children, which enables early interventions that provide the best chances for improved outcomes. Identifying a developmental disorder is the initial step in evaluating the disorder. Surveillance is a flexible, continuous, longitudinal process aimed at identifying concerns, and it should be performed at every well-child visit. Screening involves administering a brief, standardized tool normalized for specific ages and stages of development to identify any developmental delays or specific concerns such as autism. Screening is recommended at every office visit and whenever a parent expresses a concern. Two general types of screening tests are available: problem-specific screening and broadband developmental screening. For each type, there are multiple different tests available that can be administered by a parent or a health care provider. Factors to consider in the test selection are the age range for which it is intended, time it takes to complete and score, cost, whether the test is paper-based or electronic, and the language availability.
Topics: Autistic Disorder; Child; Child, Preschool; Developmental Disabilities; Early Intervention, Educational; Humans; Infant; Mass Screening; Population Surveillance
PubMed: 26555812
DOI: 10.3949/ccjm.82.s1.06 -
Genes, Brain, and Behavior Jan 2022
Topics: Animals; Autistic Disorder; Developmental Disabilities; Humans
PubMed: 34891220
DOI: 10.1111/gbb.12789 -
Canadian Family Physician Medecin de... Aug 2018To provide a framework for primary care providers to approach developmental disabilities in both refugee and nonrefugee immigrant populations. (Review)
Review
OBJECTIVE
To provide a framework for primary care providers to approach developmental disabilities in both refugee and nonrefugee immigrant populations.
SOURCES OF INFORMATION
Ovid MEDLINE was searched from January 2005 to February 2017 using subject headings and for relevant English-language articles. Most of the content and recommendations in this review are derived from the Canadian Paediatric Society's Caring for Kids New to Canada website.
MAIN MESSAGE
As family physicians, it can be daunting to care for newcomer families who arrive without previous developmental disability or delay screening and diagnoses. Disruption to families and education, decreased health literacy, witnessed traumatic events, and culturally specific barriers can affect the presentation of developmental concerns among refugees and immigrants. Surveillance and screening for developmental concerns in a culturally sensitive manner using evidence-based tools are cornerstones of early intervention.
CONCLUSION
For refugees in particular, in light of the inequities they have faced before migration and during their migration trajectory, screening for developmental disabilities and intervening provides an opportunity to help achieve equitable outcomes for refugee children and optimize their health and well-being.
Topics: Canada; Cultural Competency; Developmental Disabilities; Emigrants and Immigrants; Health Services Accessibility; Humans; Refugees
PubMed: 30108071
DOI: No ID Found