-
Child and Adolescent Psychiatric... Jul 2017Intellectual disability (ID) and language disorders are neurodevelopmental conditions arising in early childhood. Child psychiatrists are likely to encounter children... (Review)
Review
Intellectual disability (ID) and language disorders are neurodevelopmental conditions arising in early childhood. Child psychiatrists are likely to encounter children with ID and language disorders because both are strongly associated with challenging behaviors and mental disorder. Because early intervention is associated with optimal outcomes, child psychiatrists must be aware of their signs and symptoms, particularly as related to delays in cognitive and adaptive function. Optimal management of both ID and language disorders requires a multidisciplinary, team-based, and family centered approach. Child psychiatrists play an important role on this team, given their expertise with contextualizing and treating challenging behaviors.
Topics: Child, Preschool; Humans; Infant; Intellectual Disability; Language Disorders
PubMed: 28577608
DOI: 10.1016/j.chc.2017.03.001 -
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 -
BMC Genomics Dec 2021Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID... (Review)
Review
Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well as the difficulty in the establishment of the inheritance pattern, often result in a delay in the diagnosis. It has become apparent that massive parallel sequencing can overcome these difficulties. In this review we address: (i) ID genetic aetiology, (ii) clinical/medical settings testing, (iii) massive parallel sequencing, (iv) variant filtering and prioritization, (v) variant classification guidelines and functional studies, and (vi) ID diagnostic yield. Furthermore, the need for a constant update of the methodologies and functional tests, is essential. Thus, international collaborations, to gather expertise, data and resources through multidisciplinary contributions, are fundamental to keep track of the fast progress in ID gene discovery.
Topics: Genomics; Humans; Intellectual Disability
PubMed: 34930158
DOI: 10.1186/s12864-021-08227-4 -
The International Journal of Behavioral... Jul 2022Children and adolescents with intellectual disabilities (IDs) tend to have lower levels of physical activity and poorer mental health than their typically developing... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Children and adolescents with intellectual disabilities (IDs) tend to have lower levels of physical activity and poorer mental health than their typically developing peers. Studies on the effects of physical activity on the mental health of children with IDs using the Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework are scarce.
METHODS
A systematic literature review using six databases (CINAHL, Eric, PsycINFO, PubMed, SPORTDiscus, and Web of Science) was conducted from January 2000 to September 2021. Studies reporting at least one physical activity intervention and mental health outcome in children and adolescents with IDs aged between 5 and 17 years were included in the meta-analysis. Preferred Reporting Items for Systematic Review and Meta-Analysis guideline, Comprehensive Meta-Analysis, and the RE-AIM framework were utilized.
RESULTS
A total of 15 studies that met the inclusion criteria were included in the meta-analysis. The effects of physical activity on mental health in children and adolescents with IDs were significant and large (Hedges' g = 0.897, p < 0.01), with medium effects on psychological health (Hedges' g = 0.542, p < 0.01) and large effects on cognitive function (Hedges' g = 1.236, p < 0.01). Randomized controlled trial (RCT) design and intervention components (> 120 minutes per week, therapeutic, and aerobic exercise) demonstrated the strongest effects. Moreover, study background (publication year, study location, and sample size), participant characteristics (age and sex), and Maintenance (RE-AIM framework) moderated the effects of physical activity on mental health. Based on the RE-AIM framework, there were higher proportions in the dimensions of Reach and Effectiveness than Adoption, Implementation, and Maintenance.
CONCLUSIONS
Physical activity appears to have positive effects on mental health, including psychological health and cognitive function, in children and adolescents with IDs. Physical activity interventions using the RE-AIM framework are recommended to assess short- and long-term impacts and translate scientific evidence into practice.
TRIAL REGISTRATION
The protocol for this meta-analysis was registered with PROSPERO ( CRD42021256543 ).
Topics: Adolescent; Child; Child, Preschool; Exercise; Humans; Intellectual Disability; Mental Health
PubMed: 35799257
DOI: 10.1186/s12966-022-01312-1 -
Journal of Mother and Child Mar 2022Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the... (Review)
Review
Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called "molar tooth sign." Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. Such pleiotropic characteristics are typical of many disorders involving primary cilium aberrations, providing a significant overlap between JS and other ciliopathies such as nephronophthisis, Meckel syndrome, and Bardet-Biedl syndrome. This review will describe some characteristics of JS associated with changes in 35 genes, and will also address subtypes of JS, clinical diagnosis, and the future of therapeutic developments.
Topics: Humans; Cerebellum; Abnormalities, Multiple; Eye Abnormalities; Retina; Polycystic Kidney Diseases; Intellectual Disability
PubMed: 36803942
DOI: 10.34763/jmotherandchild.20222601.d-22-00034 -
Developmental Medicine and Child... Mar 2020Children with cerebral palsy (CP) have an increased risk of cognitive impairments. This narrative review of the literature discusses assessment of cognition in children... (Review)
Review
Children with cerebral palsy (CP) have an increased risk of cognitive impairments. This narrative review of the literature discusses assessment of cognition in children with CP, presents the most salient characteristics of cognitive functioning pertaining to each subtype, and discusses the relationships between brain injury, functioning, and intervention from a developmental perspective. A search for original studies of cognitive functioning in children with different subtypes of CP was performed. The search resulted in 81 unique hits. There were few studies with a representative sample of children with CP where all participants were individually assessed. Cognitive functioning in children with the most severe motor impairments were often assumed and not assessed. Furthermore, there was a confounding of IQ below 70 and intellectual disability, possibly leading to an overestimation of the prevalence of intellectual disability. Longitudinal neuropsychological studies, including also very young children and those with the most severe speech and motor impairments, as well as intervention studies, are called for. WHAT THIS PAPER ADDS: Few studies have assessed cognition in a representative sample of children with cerebral palsy. Cognition in children with severe motor impairment is often assumed, not assessed. Lack of assessment may lead to overestimating the prevalence of intellectual disability. Lowered cognitive functioning in older children highlights the need for longitudinal studies.
Topics: Cerebral Palsy; Child; Cognition; Cognitive Dysfunction; Humans; Intellectual Disability; Neuropsychological Tests
PubMed: 32010976
DOI: 10.1111/dmcn.14463 -
Italian Journal of Pediatrics Apr 2017Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting... (Review)
Review
BACKGROUND
Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS. The aim of this review was to gather the current clinical and molecular knowledge about FXS to provide clinicians with a tool to guide the initial assessment and follow-up of FXS and to offer to laboratory workers and researchers an update about the current diagnostic procedures.
DISCUSSION
FXS is a well-known condition; however, most of the studies thus far have focused on neuropsychiatric features. Unfortunately, some of the available studies have limitations, such as the paucity of patients enrolled or bias due to the collection of the data in a single-country population, which may be not representative of the average global FXS population. In recent years, insight into the adult presentation of the disease has progressively increased. Pharmacological treatment of FXS is essentially symptom based, but the growing understanding of the molecular and biological mechanisms of the disease are paving the way to targeted therapy, which may reverse the effects of FMRP deficiency and be a real cure for the disease itself, not just its symptoms.
CONCLUSIONS
The clinical spectrum of FXS is wide, presenting not only as an isolated intellectual disability but as a multi-systemic condition, involving predominantly the central nervous system but potentially affecting any apparatus. Given the relative high frequency of the condition and its complex clinical management, FXS appears to have an important economic and social burden.
Topics: Disease Progression; Female; Fragile X Mental Retardation Protein; Fragile X Syndrome; Humans; Intellectual Disability; Male; Mutation; Prognosis; Rare Diseases
PubMed: 28420439
DOI: 10.1186/s13052-017-0355-y -
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 -
Revista de Neurologia Jul 2021Intellectual disability is a neurodevelopmental condition characterised by cognitive deficits and functional impairments in adaptive behaviour that occur during... (Review)
Review
Intellectual disability is a neurodevelopmental condition characterised by cognitive deficits and functional impairments in adaptive behaviour that occur during development. It should be noted that this generates a variety of symptomatology, which is why it is considered by neuropsychology as an axis of analysis. In this regard, emphasis will be placed on why neuropsychological screening is necessary in this condition. Such relevance lies, on the one hand, in determining whether the child's disability is due to alterations in the nervous system or to unfavourable conditions of the environment in which he/she develops. On the other hand, neuropsychological examination provides information on which areas of the brain are responsible for one or the other disability. It also makes it possible to identify the individual particularities of the child's development, that is, his/her performance profile (strengths and weaknesses), but not necessarily to establish the diagnosis of intellectual disability and, from there, decide on intervention programmes adapted to the characteristics and needs of each case.
Topics: Child; Child, Preschool; Cultural Characteristics; Developmental Disabilities; Humans; Infant; Intellectual Disability; Neurologic Examination; Neuropsychological Tests
PubMed: 34254662
DOI: 10.33588/rn.7302.2021025 -
The Journal of Neuroscience : the... Nov 2017Intellectual disability (ID) is a prevailing neurodevelopmental condition associated with impaired cognitive and adaptive behaviors. Many chromatin-modifying enzymes and... (Review)
Review
Intellectual disability (ID) is a prevailing neurodevelopmental condition associated with impaired cognitive and adaptive behaviors. Many chromatin-modifying enzymes and other epigenetic regulators have been genetically associated with ID disorders (IDDs). Here we review how alterations in the function of histone modifiers, chromatin remodelers, and methyl-DNA binding proteins contribute to neurodevelopmental defects and altered brain plasticity. We also discuss how progress in human genetics has led to the generation of mouse models that unveil the molecular etiology of ID, and outline the direction in which this field is moving to identify therapeutic strategies for IDDs. Importantly, because the chromatin regulators linked to IDDs often target common downstream genes and cellular processes, the impact of research in individual syndromes goes well beyond each syndrome and can also contribute to the understanding and therapy of other IDDs. Furthermore, the investigation of these disorders helps us to understand the role of chromatin regulators in brain development, plasticity, and gene expression, thereby answering fundamental questions in neurobiology.
Topics: Epigenesis, Genetic; Epigenomics; Humans; Intellectual Disability
PubMed: 29118205
DOI: 10.1523/JNEUROSCI.1840-17.2017