Search results for "developmental disorder"
showing 10 items of 147 documents
The structure and correlates of self-injurious behavior in an institutional setting
2001
The prevalence of self-injurious behavior (SIB) in an institution for people with mental retardation was investigated. The relationship between SIB and age, sex, level of retardation, length of institutionalization, adaptive behavior, and probable causes of mental retardation was examined. A factor analysis on the topographies of SIB indicated the existence of two forms of SIB, stereotyped and social. The results are discussed in terms of probable causes of SIB.
A dominant gene for developmental dyslexia on chromosome 3.
2001
Developmental dyslexia is a neurofunctional disorder characterised by an unexpected difficulty in learning to read and write despite adequate intelligence, motivation, and education. Previous studies have suggested mostly quantitative susceptibility loci for dyslexia on chromosomes 1, 2, 6, and 15, but no genes have been identified yet. We studied a large pedigree, ascertained from 140 families considered, segregating pronounced dyslexia in an autosomal dominant fashion. Affected status and the subtype of dyslexia were determined by neuropsychological tests. A genome scan with 320 markers showed a novel dominant locus linked to dyslexia in the pericentromeric region of chromosome 3 with a m…
Sleep disturbances in Angelman syndrome: a questionnaire study.
2003
Only few studies are available on sleep disorders in Angelman syndrome (AS), a neurodevelopmental disorder with several behavior disturbances. The aim of this study was to determine the prevalence of sleep disorders in a relatively large group of AS subjects, compared to that of age-matched controls. Forty-nine consecutive parents of patients with AS (26 males and 23 females aged 2.3-26.2 years) were interviewed and filled out a comprehensive sleep questionnaire. Based on their genetic etiology, four groups were defined: deletion of chromosome 15q11-13 (25 subjects); methylation imprinting mutation (six subjects), UBE3A mutations (seven subjects) and paternal uniparental disomy (five subjec…
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders
2008
The gastrin-releasing peptide receptor (GRPR) was implicated for the first time in the pathogenesis of Autism spectrum disorders (ASD) by Ishikawa-Brush et al. [Ishikawa-Brush et al. (1997): Hum Mol Genet 6: 1241-1250]. Since this original observation, only one association study [Marui et al. (2004): Brain Dev 26: 5-7] has further investigated, though unsuccessfully, the involvement of the GRPR gene in ASD. With the aim of contributing further information to this topic we have sequenced the entire coding region and the intron/exon junctions of the GRPR gene in 149 Italian autistic patients. The results of this study led to the identification of four novel point mutations, two of which, that…
Maternal Thyroid Function in Early Pregnancy and Child Attention-Deficit Hyperactivity Disorder: An Individual-Participant Meta-Analysis
2019
Background: Thyroid hormone is essential for optimal fetal brain development. Evidence suggests that both low and high maternal thyroid hormone availability may have adverse effects on child neurodevelopmental outcomes, but the effect on behavioral problems remains unclear. We studied the association of maternal thyrotropin (TSH) and free thyroxine (fT4) concentrations during the first 18 weeks of pregnancy with child attention-deficit hyperactivity disorder (ADHD). Methods: A total of 7669 mother-child pairs with data on maternal thyroid function and child ADHD were selected from three prospective population-based birth cohorts: INfancia y Medio Ambiente (INMA; N = 1073, Spain), Generation…
Association of Cesarean Delivery With Risk of Neurodevelopmental and Psychiatric Disorders in the Offspring: A Systematic Review and Meta-analysis.
2019
This systematic review and meta-analysis examines the association between birth by cesarean delivery and risk of neurodevelopmental and psychiatric disorders in the offspring compared with birth by vaginal delivery.
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
2022
De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability. The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum (ER) stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n=38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/intellectual disability (71%), non-specific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%)…
Decoding Children's Social Behavior
2013
We introduce a new problem domain for activity recognition: the analysis of children's social and communicative behaviors based on video and audio data. We specifically target interactions between children aged 1-2 years and an adult. Such interactions arise naturally in the diagnosis and treatment of developmental disorders such as autism. We introduce a new publicly-available dataset containing over 160 sessions of a 3-5 minute child-adult interaction. In each session, the adult examiner followed a semi-structured play interaction protocol which was designed to elicit a broad range of social behaviors. We identify the key technical challenges in analyzing these behaviors, and describe met…
Microglia in CNS development: Shaping the brain for the future
2017
Microglial cells are the resident macrophages of the central nervous system (CNS) and are mainly known for their roles in neuropathologies. However, major recent developments have revealed that these immune cells actively interact with neurons in physiological conditions and can modulate the fate and functions of synapses. Originating from myeloid precursors born in the yolk sac, microglial cells invade the CNS during early embryonic development. As a consequence they can potentially influence neuronal proliferation, migration and differentiation as well as the formation and maturation of neuronal networks, thereby contributing to the entire shaping of the CNS. We review here recent evidenc…
Enhanced Spatial Navigation Skills in Sequence-Space Synesthetes
2018
Contains fulltext : 219554.pdf (Publisher’s version ) (Closed access) Individuals with sequence-space synesthesia (SSS) perceive sequences like months, days and numbers in certain spatial arrangements. Several cognitive benefits have been associated with SSS, such as enhanced mental rotation, more vivid visual imagery and an advantage in spatial processing. The current study aimed to further investigate these cognitive benefits, focusing on spatial navigation skills, to explore if their enhanced sensitivity to spatial relations is reflected in enhanced navigational performance. Synesthetes were distinguished from controls by means of a questionnaire, a consistency test and drawings. A virtu…