Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clin Genet. 2012;82(3):248–55. CentralHalgren, C., Kjaergaard, S., Bak, M., Hansen, C., El-Schich, Z., Anderson, C. M., et al. (2012). Corpus ...
All individuals shared congenital microcephaly at birth, intellectual disability, developmental delay, severe speech impairment, short stature, and distinct facial features. The severity of the microcephaly varied from − 2 SD to − 5 SD. Seizures, structural brain abnormalities, eye defects, ataxia...
(2014) Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems. Am J Hum Genet 94: 649-661.Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, et al. Mutations affecting the SAND domain of DEAF1 cause intellectual ...
Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014; 94 :649–661. doi: 10.1016/j.ajhg.2014.03.013. [ Cross Ref ]Mutations affecting the SAND domain of DEAF1 cause intellectual disability with ...
Communication disorder; Language impairment/disorder; Speech impairment/disorderShort Description or Definition Speech/communication impairments are among the core features of autism spectrum disorders (ASD). Although enormous variability in the development of speech and language is observed in individuals with...
Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems Author links open overlay panelZafar Iqbal 1, Marjolein H. Willemsen 1, Marie-Amélie Papon 2 3, Luciana Musante 4, Marco Benevento 5, Hao Hu 4, Hanka ...
Correction: Mobile Apps for Speech-Language Therapy in Adults With Communication Disorders: Review of Content and Quality UNSTRUCTURED Worldwide, more than 75% of people with acquired brain injury (ABI) experience communication disorders. Communication disorders are impairment......
Hempel, M. et al. De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment.Am. J. Hum. Genet.97, 493–500 (2015). ArticleCASGoogle Scholar Popp, B. et al. Do the exome: a case of Williams–Beuren syndrome with severe epilepsy due to a truncating de nov...
impairment was CAS, eliminating participants with syndromes and other known neurodevelopmental disorders that can affect speech, such as autism spectrum disorder, sensorineural hearing impairment, and intellectual disability. Nonetheless, nearly 72% of the current participants demonstrated oral language ...
Motor speech disordersare common in a number of neurological conditions including diseases involving impairment of the pyramidal, extrapyramidal, and cerebellar pathways, cranial nerves, muscular apparatus,neuromuscularplaque, and of cognitive, symbolic and mnestic activities. ...