Pragmatic language impairment in children with Noonan syndrome

Selås, Magnhild; Helland, Wenche Andersen

doi:10.1080/02699206.2016.1188422

Cited by 14 publications

(12 citation statements)

References 36 publications

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“…Many children with NF1 or NS have speech articulation difficulties, and approximately 30% of children with NS [ 22 ] and 23–37% of children with NF1 [ 24 , 43 ] demonstrate impairment on gold-standard measures of language functioning. Parent rating measures indicate that children with NS are at increased risk for pragmatic communication problems relative to unaffected children [ 22 , 23 ] including skills such as interpreting gestures and facial expressions, understanding conversational conventions and making inferences about meaning in language based on context. On more direct, objective measures, individuals with NS or NF1 have been found to have more difficulties than unaffected peers with regard to perception and identification of emotional expression in faces [ 44 – 47 ].…”

Section: Discussionmentioning

confidence: 99%

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1

Pierpont

Hudock

Foy

et al. 2018

J Neurodevelop Disord

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BackgroundGene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS.MethodsParents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child’s social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety.ResultsWith respect to overall social skills, average ratings of children in both clinical groups were similar, and indicated weaker social skills compared to unaffected siblings. Although ratings of social skills were outside of normal limits for more than four in ten children within the clinical groups, most of the deficits were mild/moderate. Fifteen percent of the children with NS and 5% of the children with NF1 were rated as having severe social skills impairment (< − 2SD). Independent of diagnosis, having fewer ADHD symptoms or better social-pragmatic language skills was predictive of stronger social skills.ConclusionsAmidst efforts to support social skill development among children and adolescents with RASopathies, neuropsychological correlates such as social language competence, attention, and behavioral self-regulation could be important targets of intervention.

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Section: Discussionmentioning

confidence: 99%

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1

Pierpont

Hudock

Foy

et al. 2018

J Neurodevelop Disord

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“…One of the studies reported pragmatic language impairment [PLI] in children with NS. People with PLI have difficulties in understanding and adapting to the needs of their conversational partners [33].…”

Section: Introductionmentioning

confidence: 99%

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

et al. 2020

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Background: Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic variants in NS-affected patients. Therefore, clinically diagnosed NS individuals are initially tested for pathogenic variants in PTPN11 gene to confirm the relationship before studying genotype-phenotype correlation. Methods: Individuals (363) with clinically diagnosed NS from four hospitals in South India were recruited and the exons of PTPN11 gene were sequenced. Results: Thirty-two previously described pathogenic variants in eight different exons in PTPN11 gene were detected in 107 patients, of whom 10 were familial cases. Exons 3, 8 and 13 had the highest number of pathogenic variants. The most commonly identified pathogenic variants in this series were in exon 8 (c.922A > G, c.923A > G), observed in 22 of the affected. Congenital cardiac anomalies were present in 84% of the mutation-positive cohort, the majority being defects in the right side of the heart. The most common facial features were downward-slanting palpebral fissures, hypertelorism and low-set posteriorly rotated ears. Other clinical features included short stature (40%), pectus excavatum (54%) and, in males, unilateral or bilateral cryptorchidism (44%). Conclusion: The clinical features and mutational spectrum observed in our cohort are similar to those reported in other large studies done worldwide. This is the largest case series of NS-affected individuals with PTPN11 mutations described till date from India.

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“…The assessment and work of a speech therapist are also necessary due to disturbances in the development of communication competencies [19,20]. As shown in a previous study, children, and adolescents with NS do not have a single consistent pragmatic profile; however, 76.5% of participants in a study of pragmatic speech disorders showed communication disorders, and the pragmatic ability of children with NS was significantly lower than in the control group [21].…”

Section: Discussionmentioning

confidence: 96%

Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene — Case Report

Kaczan

Śmigiel

Kazimierska-Zając

et al. 2019

PNIN

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Introduction. Noonan syndrome (NS) is a genetically determined disease, inherited from autosomal dominant. About 50% of patients have a mutation in the PTPN11 gene, and mutations in the other genes are much less frequent, up to 10-15% for SOS1, RAF1, and RIT1, as well as up to 1-2% for others. Aim. To present the clinical picture of a child with NS with a non-frequent mutation in the RAF1 gene and to describe a proposal of good practice based on the multi-specialty child care procedures used from birth to 3 years of age. Case Report. The paper presents a boy with NS and his psychomotor and linguistic development during the 36 months of his life. The infant was born by cesarean section in average general condition and with features of macrosomia. Castillo-Morales rehabilitation techniques were used to improve the coordination of suction, swallowing and breathing. Bobath Neurodevelopmental Treatment was also used on the hospital ward. The NS child's development was assessed using the Munich Functional Developmental Diagnostics (MFDD). At the age of 36 months, the boy presents psychomotor development appropriate for the age of a healthy child. He remains under multidisciplinary team care and is intensively rehabilitated accordingly to both movement and linguistic functions. Discussion. Management of NS should be comprehensive and multidisciplinary, and continuous monitoring of patients is crucial. Although a number of patients experience learning difficulties and a mild form of mental impairment, the diagnosis of NS does not predispose to mental disorders. Conclusions. NS is a multi-symptomatic disease that manifests itself in the expression of clinical symptoms requiring the interdisciplinary cooperation of many specialists. The fact is that the identified mutation in the RAF1 gene in patients with NS does not mean they are predestined to develop psychomotor disorders.

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Pragmatic language impairment in children with Noonan syndrome

Cited by 14 publications

References 36 publications

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

Neurodevelopmental Stimulation of a Child with a Noonan Syndrome with a Non-Frequent Mutation in RAF1 Gene — Case Report

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