Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 3 de 3
Filter
Add more filters










Database
Language
Publication year range
1.
Child Neuropsychol ; 26(8): 1112-1144, 2020 11.
Article in English | MEDLINE | ID: mdl-32519571

ABSTRACT

Fetal Alcohol Spectrum Disorder (FASD) is one of the leading causes of intellectual disability and learning difficulties around the world. Children with FASD often have extremely low adaptive behavior due to the severity of brain impairment, however there is limited understanding as to the important predictors of adaptive behavior. In a study of 39 children with FASD and 29 comparison children, we found that social cognition (specifically recognizing emotions) was the only significant independent predictor of teacher-rated adaptive functioning even after including IQ, executive functioning, and adverse childhood experiences into the model. In this current study, Maori (Indigenous people of Aotearoa New Zealand) were overrepresented; therefore, the research was supported by a strong partnership with Te Wahanga Hauora Maori (Maori Health Service). Aotearoa New Zealand's colonized history is recognized and findings are discussed with regard to both the psychological literature and a Te Ao Maori worldview.


Subject(s)
Adaptation, Psychological , Emotions , Executive Function/physiology , Fetal Alcohol Spectrum Disorders/psychology , Indigenous Peoples/statistics & numerical data , Adolescent , Brain , Child , Cognition , Female , Fetal Alcohol Spectrum Disorders/ethnology , Humans , Male , New Zealand , Pregnancy
2.
Eur J Hum Genet ; 26(1): 85-93, 2018 01.
Article in English | MEDLINE | ID: mdl-29184170

ABSTRACT

Syndromes caused by copy number variations are described as reciprocal when they result from deletions or duplications of the same chromosomal region. When comparing the phenotypes of these syndromes, various clinical features could be described as reversed, probably due to the opposite effect of these imbalances on the expression of genes located at this locus. The NFIX gene codes for a transcription factor implicated in neurogenesis and chondrocyte differentiation. Microdeletions and loss of function variants of NFIX are responsible for Sotos syndrome-2 (also described as Malan syndrome), a syndromic form of intellectual disability associated with overgrowth and macrocephaly. Here, we report a cohort of nine patients harboring microduplications encompassing NFIX. These patients exhibit variable intellectual disability, short stature and small head circumference, which can be described as a reversed Sotos syndrome-2 phenotype. Strikingly, such a reversed phenotype has already been described in patients harboring microduplications encompassing NSD1, the gene whose deletions and loss-of-function variants are responsible for classical Sotos syndrome. Even though the type/contre-type concept has been criticized, this model seems to give a plausible explanation for the pathogenicity of 19p13 microduplications, and the common phenotype observed in our cohort.


Subject(s)
Abnormalities, Multiple/genetics , Chromosome Duplication , Chromosomes, Human, Pair 19/genetics , Intellectual Disability/genetics , NFI Transcription Factors/genetics , Abnormalities, Multiple/pathology , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Intellectual Disability/pathology , Male , Syndrome
SELECTION OF CITATIONS
SEARCH DETAIL
...