Results 201 to 210 of about 57,085 (307)

Clinical and genetic characterization of intellectual disability

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara   +14 more
wiley   +1 more source

Reliability and stability of cerebral palsy classification scales for individuals with STXBP1‐ and SYNGAP1‐related disorders

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Aim To determine the interrater reliability and stability of the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS)/Mini‐MACS, and Communication Function Classification System (CFCS) in individuals with STXBP1‐ and SYNGAP1‐related disorders.
Samuel R. Pierce   +6 more
wiley   +1 more source

Neonatal Encephalopathy: Novel Phenotypes and Genotypes Identified by Genome Sequencing. [PDF]

open access: yesNeurol Genet
Ambrose A   +10 more
europepmc   +1 more source

The cerebral palsy directed acyclic graph: A structural causal model of aetiology

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
The first international cerebral palsy directed acyclic graph (CP‐DAG) maps over 100 nodes and 370 links across biological, clinical, and social domains, offering a unified causal framework to guide research and identify knowledge gaps. Abstract Aim To describe the development of the initial version of the cerebral palsy (CP) directed acyclic graph ...
Shona Goldsmith   +9 more
wiley   +1 more source

Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng   +14 more
wiley   +1 more source

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