A tale of subcutaneous nodules, broad thumbs, supernumerary teeth, and intellectual disability in a patient

Anissa Zaouak; Oumayma Magdoud; Raja Jouini; Houda Hammami; Samy Fenniche

doi:10.1111/ijd.14379

A tale of subcutaneous nodules, broad thumbs, supernumerary teeth, and intellectual disability in a patient

International Journal of Dermatology ◽

10.1111/ijd.14379 ◽

2019 ◽

Vol 58 (7) ◽

pp. 795-796 ◽

Cited By ~ 1

Author(s):

Anissa Zaouak ◽

Oumayma Magdoud ◽

Raja Jouini ◽

Houda Hammami ◽

Samy Fenniche

Keyword(s):

Intellectual Disability ◽

Supernumerary Teeth ◽

Subcutaneous Nodules ◽

Broad Thumbs

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Deletion of SHANK3 and CREBBP gene in the patients with intellectual disability and mix phenotype

10.36811/ijgmgt.2019.110004 ◽

2019 ◽

pp. 15-20

Author(s):

Jamileh Malbin

Keyword(s):

Intellectual Disability ◽

Short Stature ◽

Congenital Anomalies ◽

Gene Deletion ◽

Normal Male ◽

Multiplex Ligation Probe Amplification ◽

History Of ◽

Subtelomeric Rearrangements ◽

Crebbp Gene ◽

Broad Thumbs

Rubinstein-Taybi Syndrome (RSTS) as a group of congenital anomalies mainly include, short broad thumbs and toes, short stature and intellectual disability are caused by either a micro-deletion in the CREBBP (CBP) or EP300 genes. Generally most RSTS patients have a deletion in the CREBBP gene but some patients have shown deletion in the EP300 gene. Here we introduce an affected case without some typical characteristics of RSTS with deletions in the CREBBP and SHANK3 genes. The patient was a 24 years old man with a history of infantile hypotonia and childhood developmental delay, heavy eyebrows, ptosis, speech difficulty without large thumb and toes. The conventional cytogenetic finding was normal male. Further investigation was performed using Multiplex Ligation Probe Amplification (MLPA) technique to screen micro-deletion syndromes and subtelomeric rearrangements and Micro-deletion was detected in CREBBP and SHANK3 gene and a detected in DECR2 gene. Deletion in the CREBBP or EP300 genes or both in the patients with broad thumb and toes (RSTS) has been detected but there are other patients with deletion in CREBBP gene without this sign of RSTS. However, we report SHANK3 gene deletion in the patient with deletion in CREBBP gene and without broad thumbs and toes. Keywords: Rubinstein-Taybi Syndrome (RSTS); CREBBP; SHANK3; Broad thumb and toes

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Normocentric biases taint cognitive neuroscience and intervention of autism

Behavioral and Brain Sciences ◽

10.1017/s0140525x18002297 ◽

2019 ◽

Vol 42 ◽

Cited By ~ 1

Author(s):

Laurent Mottron

Keyword(s):

Intellectual Disability ◽

Cognitive Neuroscience ◽

Social Motivation ◽

Repetitive Behaviors ◽

Restricted Interests ◽

Autistic People

Abstract Stepping away from a normocentric understanding of autism goes beyond questioning the supposed lack of social motivation of autistic people. It evokes subversion of the prevalence of intellectual disability even in non-verbal autism. It also challenges the perceived purposelessness of some restricted interests and repetitive behaviors, and instead interprets them as legitimate exploratory and learning-associated manifestations.

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