Defining language disorders in children and adolescents with Noonan Syndrome.
PTPN11
IQ
Linguistic functioning
RASopathies
SLI
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
26
07
2019
revised:
08
11
2019
accepted:
13
11
2019
pubmed:
15
2
2020
medline:
7
4
2021
entrez:
15
2
2020
Statut:
ppublish
Résumé
Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and variable cognitive deficits as major features. Over the years, neuropsychological and behavioral studies explored alteration of cognitive functioning and related domains, such as learning, memory, and attention. To our knowledge, however, data concerning the language profile in this disorder is scarce. The aim of the present study was to detect specific language functioning combining nonverbal intelligence quotient and language abilities and to pinpoint strengths and weaknesses in the language domains. The language profile of 37 Italian participants with molecularly confirmed diagnosis of Noonan Syndrome was evaluated using specific tools to assess vocabulary and grammar comprehension and production, as well as phonological development. We observed that 78% of affected individuals exhibited language impairment. Within language domains, the strong area was lexical production and grammar production was the weak area. Almost half the participants manifested a similar trend of specific language impairment. Nonverbal intelligence quotient only correlated with grammar comprehension. Our study expands present knowledge about the language profile in NS, and provides data that could enable more effective patient management and appropriate intervention.
Sections du résumé
BACKGROUND
Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and variable cognitive deficits as major features. Over the years, neuropsychological and behavioral studies explored alteration of cognitive functioning and related domains, such as learning, memory, and attention. To our knowledge, however, data concerning the language profile in this disorder is scarce. The aim of the present study was to detect specific language functioning combining nonverbal intelligence quotient and language abilities and to pinpoint strengths and weaknesses in the language domains.
METHODS
The language profile of 37 Italian participants with molecularly confirmed diagnosis of Noonan Syndrome was evaluated using specific tools to assess vocabulary and grammar comprehension and production, as well as phonological development.
RESULTS
We observed that 78% of affected individuals exhibited language impairment. Within language domains, the strong area was lexical production and grammar production was the weak area. Almost half the participants manifested a similar trend of specific language impairment. Nonverbal intelligence quotient only correlated with grammar comprehension.
CONCLUSION
Our study expands present knowledge about the language profile in NS, and provides data that could enable more effective patient management and appropriate intervention.
Identifiants
pubmed: 32059087
doi: 10.1002/mgg3.1069
pmc: PMC7196479
doi:
Substances chimiques
PTPN11 protein, human
EC 3.1.3.48
Protein Tyrosine Phosphatase, Non-Receptor Type 11
EC 3.1.3.48
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1069Informations de copyright
© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
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