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Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
KANSL1 variant of social function tension speech language apraxia
2018/3/5
KANSL1 variants, 25 with 17q21.31 microdeletion), aged 1.0–27.0 years were assessed for oral-motor, speech, language, literacy, and social functioning. Early history included hypotonia and feeding dif...
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
Schinzel-Giedion syndrome hematologic malignancies
2017/8/25
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo ger...
Characterisation of CASPR2 deficiency disorder-a syndrome involving autism,epilepsy and language impairment
CNTNAP2 Epilepsy Intellectual disability Language regression Autism
2016/5/3
Background: Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTN...
Elicited production of relative clauses in children with Williams syndrome
Williams syndrome children
2015/9/2
Relative clauses have been implicated alternately as a strength and a weakness
in the language of people with Williams Syndrome (WS). To clarify the facts,
an elicited production test was administer...
Pragmatic Inferences in High-Functioning Adults with Autism and Asperger Syndrome
Autistic disorder Asperger syndrome Pragmatics Inferences Scalar implicatures Language understanding
2015/4/7
Although people with autism spectrum disorders (ASD) often have severe problems with pragmatic aspects of language, little is known about their pragmatic reasoning. We carried out a behavioral study o...
Increase in prefrontal cortical volume following cognitive behavioural therapy in patients with chronic fatigue syndrome
neural plasticity prefrontal cortex grey matter increase cognitive behavioural therapy
2015/4/3
Chronic fatigue syndrome (CFS) is a disabling disorder, characterized by persistent or relapsing fatigue. Recent studies have detected a decrease in cortical grey matter volume in patients with CFS, b...