Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder

AbstractTatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal dominant disease is caused by a germline mutation in DNMT3A. Some patients with this syndrome develop mild to severe intellectual disability, which is sometimes accompanied by autism spectrum disorder or other developmental disorders. We report a Japanese patient with severe intellectual disability and autism spectrum disorder with a de novo mutation in the active domain of DNMT3A.

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A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages

Research in Developmental Disabilities ◽

10.1016/j.ridd.2021.104029 ◽

2021 ◽

Vol 116 ◽

pp. 104029

Author(s):

Jean-Louis Adrien ◽

Emmanuelle Taupiac ◽

Eric Thiébaut ◽

Marie-Anna Paulais ◽

Julien Van-Gils ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Intellectual Disability ◽

Comparative Study ◽

Emotional Development ◽

Children With Autism ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Typically Developing ◽

Typically Developing Children ◽

Severe Intellectual Disability

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The Assessment and Presentation of Autism Spectrum Disorder and Associated Characteristics in Individuals with Severe Intellectual Disability and Genetic Syndromes

10.1093/oxfordhb/9780195305012.013.0018 ◽

2011 ◽

Cited By ~ 5

Author(s):

Joanna Moss ◽

Patricia Howlin ◽

Chris Oliver

Keyword(s):

Autism Spectrum Disorder ◽

Intellectual Disability ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Genetic Syndromes ◽

Severe Intellectual Disability

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Use of Multisensory Room in the Development of Psychomotricity in students with Autism Spectrum Disorder and Intellectual Disability

Educatia 21 ◽

10.24193/ed21.2021.20.06 ◽

2021 ◽

Vol 20 ◽

pp. 47-55

Author(s):

Jucan Silvia Alexandrina ◽

Stan Cristian ◽

Cornelia Stan

Keyword(s):

Autism Spectrum Disorder ◽

Intellectual Disability ◽

Special Needs ◽

Intervention Program ◽

National Curriculum ◽

Autism Spectrum ◽

Spectrum Disorder ◽

Severe Intellectual Disability ◽

Children With Asd ◽

Special Needs Education

The schooling of children with autism spectrum disorder (ASD) and severe intellectual disability (ID) in special schools, requires personalized professional intervention. Sensory, motor and psychomotor education of the disabled child is an important part of integration in all aspects: educationally, professionally, socially. Activities aimed for the development of the psychomotricity in children with ASD and severe ID are carried out in accordance with the requirements of the national curriculum for special-needs education. The multisensory room is a complex of multifaceted instrument. Our study aims to establish the level of efficacy of an intervention program comprising of activities for the development of psychomotricity carried out in the multisensory room, individualized for children with ASD and severe ID. Keywords: Autism Spectrum Disorder; Psychomotricity; Intellectual Disability; Special-Needs Education; Intervention Plan.

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