RSK2mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family

2013 ◽  
Vol 85 (1) ◽  
pp. 96-99 ◽  
Author(s):  
I Maystadt ◽  
A Destree ◽  
V Benoit ◽  
A Aeby ◽  
D Lederer ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Generation Family

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity

2016 ◽  
Vol 59 (10) ◽  
pp. 522-525 ◽  
Author(s):  
Sophie Lambert ◽  
Isabelle Maystadt ◽  
Sébastien Boulanger ◽  
Pascal Vrielynck ◽  
Anne Destrée ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Generation Family

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome

2016 ◽  
Vol 59 (6-7) ◽  
pp. 310-314 ◽  
Author(s):  
Mira Kharbanda ◽  
Kaja Kannike ◽  
Anne Lampe ◽  
Jonathan Berg ◽  
Tõnis Timmusk ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Partial Deletion ◽  
Generation Family

A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family

2014 ◽  
Vol 164 (11) ◽  
pp. 2863-2868 ◽  
Author(s):  
Setareh Moghadasi ◽  
Arie van Haeringen ◽  
Lieke Langendonck ◽  
Antoinet C. J. Gijsbers ◽  
Claudia A. L. Ruivenkamp
Keyword(s):  
Intellectual Disability ◽  
Dysmorphic Features ◽  
Generation Family

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability

2016 ◽  
Vol 37 (3) ◽  
pp. 352-353 ◽  
Author(s):  
Gabriela E. Jones ◽  
Lisa Robertson ◽  
Paul Warman ◽  
Emily V. Craft ◽  
Lara Cresswell ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Generation Family

Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family

2014 ◽  
Vol 167 (1) ◽  
pp. 128-136 ◽  
Author(s):  
Amal Mahmoud Mohamed ◽  
Alaa Kamel ◽  
Wael Mahmoud ◽  
Ehab Abdelraouf ◽  
Nagwa Meguid
Keyword(s):  
Intellectual Disability ◽  
Extended Phenotype ◽  
Generation Family

Normocentric biases taint cognitive neuroscience and intervention of autism

2019 ◽  
Vol 42 ◽  
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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