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Developmental disabilities
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To determine the stress status of mothers in caring for children with intellectual disabilities from 4-9 years old and survey some related factors in order to design an intervention program to improve maternal stress.
9p
viwalton
02-07-2024
2
1
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Neurodevelopmental disorders (NDDs) such as autism spectrum disorder, intellectual disability, developmental disability, and epilepsy are characterized by abnormal brain development that may affect cognition, learning, behavior, and motor skills. High co-occurrence (comorbidity) of NDDs indicates a shared, underlying biological mechanism.
14p
vibransone
28-03-2024
5
2
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Next-generation sequencing (NGS) is now more accessible to clinicians and researchers. As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has rapidly advanced over the past few years. NGS has led to the discovery of new NDD genes with an excess of recurrent de novo mutations (DNMs) when compared to controls.
16p
vioraclene
31-03-2024
6
2
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Integrating rare variation from trio family and case–control studies has successfully implicated specific genes contributing to risk of neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASD), intellectual disability (ID), developmental disorders (DDs), and epilepsy (EPI). For schizophrenia (SCZ), however, while sets of genes have been implicated through the study of rare variation, only two risk genes have been identified.
22p
vioraclene
31-03-2024
5
2
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Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play.
20p
vioraclene
31-03-2024
4
2
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Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios.
11p
vioraclene
31-03-2024
2
2
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Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling proteins and other transcription factors.
10p
vioraclene
31-03-2024
3
1
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Smith-Magenis syndrome (SMS) is a developmental disability/multiple congenital anomaly disorder resulting from haploinsufficiency of RAI1. It is characterized by distinctive facial features, brachydactyly, sleep disturbances, and stereotypic behaviors.
15p
vioraclene
31-03-2024
4
2
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Genetic variants in the voltage-gated sodium channels SCN1A, SCN2A, SCN3A, and SCN8A are leading causes of epilepsy, developmental delay, and autism spectrum disorder. The mRNA splicing patterns of all four genes vary across development in the rodent brain, including mutually exclusive copies of the fifth protein-coding exon detected in the neonate (5N) and adult (5A).
14p
vibransone
28-03-2024
2
1
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Say–Barber–Biesecker–Young–Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability with multiple congenital anomalies, including skeletal involvement, missing, or underdeveloped kneecaps, and genital anomalies, in affected males.
7p
vitiki
30-01-2024
4
2
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The 18q-deletion syndrome is a rare congenital chromosomal disorder caused by a partial deletion of the long arm of chromosome 18. The diagnosis of a patient with this syndrome relies on the family medical history, physical examination, developmental assessment, and cytogenetic findings.
7p
vitiki
30-01-2024
5
2
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This paper are: (1) Important findings for providing effective support for the development of children with developmental disabilities, (2) “Peace of mind and self-respect” are important findings for raising children with foreign roots too, (3) Not only information about work in Japan, but also information for knowing about child-rearing and community life in Japan is important.
11p
viantman
07-04-2023
5
3
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The article focuses on a group of children with developmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, and learning disorder. Secondary disabilities are often referred to as mental disorders and behavioral complications, which arise as a result of the primary disorder/injury.
10p
viantman
07-04-2023
3
2
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Children with Special Health Care Needs (CSHCN) have higher rates of oral diseases and tooth decay compared with the general population. Children with developmental disorders/ disabilities (DD) are a subset of CSHCN whose oral health has not been specifically addressed.
10p
viferrari
28-11-2022
6
2
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Results indicate that teachers lack the knowledge of some features associated with disorders and developmental disabilities. Despite being common disorders in school children, teachers lacked necessary knowledge pertaining to LD and ADHD. This study also proposed an original tool for objectively measuring the teacher’s knowledge.
7p
lazzaro
30-12-2021
9
0
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These findings suggest that people with I/DDs feel that they should be treated with more respect and their disability merits more attention in criminal justice interactions. These thoughts could prove helpful in reducing disparities in the criminal justice system.
9p
lazzaro
30-12-2021
7
1
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Children with autism spectrum disorder (ASD) and moderate to severe intellectual disability (ID) face many challenges. There is little evidence-based research into educational settings for children with ID and ASD and in France. Little is known about how this unserved population could benefit from intervention and education.
16p
vimanama2711
28-07-2020
14
1
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Young children with developmental disabilities and delays spend significant amounts of time at home, show decreased participation in home-based activities, and receive home-based early intervention services to improve participation in activities.
10p
vimanama2711
28-07-2020
11
1
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13q33–q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evidence of this rare chromosome mutation to improve the prognosis of this rare disease.
6p
vimanama2711
28-07-2020
13
2
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This syndrome is defined by an extremely wide spectrum of characteristics; however, developmental delay and intellectual disability of various degree are present in all patients and about the 90% of patients have a severe intellectual disability. Dental agenesis or other dental anomalies have not been described in previous reports.
7p
viorochimaru2711
29-05-2020
12
1
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