Cognitive and Psychosocial Phenotype of Young Children with Neurofibromatosis-1

Klein-Tasman, Bonnie; Janke, Kelly M.; Luo, Wen; Casnar, Christy L.; Hunter, Scott J.; Tonsgard, James H.; Trapane, Pamela; Fluit, Faye van der; Kais, Lorri A.

doi:10.1017/s1355617713001227

Cited by 36 publications

(29 citation statements)

References 59 publications

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“…The present study investigates the development over time of parent‐reported behavioral problems in young children with NF1 and the influence of intelligence, language development, and early behavioral problems. In accordance with other studies (Klein‐Tasman et al, ), we did not find an elevated level of behavioral problems in young children (mean age 4;5 years), but we did find more internalizing problems at a later age (mean age 7;11 years), compared to a normative sample. Higher rates of internalizing problems indicate more anxious, withdrawn, and depressed behavior and/or more somatic complaints.…”

Section: Discussionsupporting

confidence: 92%

Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood

Rietman

Oostenbrink

Noort

et al. 2017

American J of Med Genetics Pt A

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This retrospective longitudinal study in young children with neurofibromatosis type 1 (NF1) aimed to identify if, and how early problems in behavior, intelligence, and language development are associated with later behavioral problems. At the first assessment at preschool age, we evaluated language skills, intelligence, and emotional and behavioral problems as reported by parents. The second assessment at school-age we evaluated intelligence, and emotional and behavioral problems as reported by parents and teachers. Association of baseline assessments with secondary assessment was evaluated using multivariable linear regression analysis. Of the 61 patients (25 males, 36 females; mean age 4;5 years [SD 1;1 years]) with NF1 who had a first assessment, 38 children (21 males, 17 females; mean age 7;11 years [SD 2;1 years]) had a second assessment after a mean period of 3;5 years. Longitudinal data on behavioral problems were collected for 23 of these children. Intelligence and language development were not associated with internalizing problems. Parent-rated internalizing behavioral problems significantly increased with age in this subgroup. Baseline internalizing problems predicted later internalizing problems (adjusted R = 0.33, p = 0.003). The presence of these problems at pre-school age may be predictive of internalizing problems at a later age.

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Section: Discussionsupporting

confidence: 92%

Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood

Rietman

Oostenbrink

Noort

et al. 2017

American J of Med Genetics Pt A

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“…Moreover, the age for ASD diagnosis in the NF1 + ASD group was on average 10.65 years, which can be easily situated in between these two important developmental phases of 8–10 and 11–13 years of age. These results are in line with the general idea that other than social problems are on the forefront at a younger age [Klein‐Tasman et al, ; e.g., cognitive vulnerabilities, attention problems], while also confirming the fact that some early screening tools fail to identify NF1 children having difficulties in social interaction and communication [Tinker et al, ]. It will be very important to arrange future research in such a way that it includes extensive and systematic screening and/or assessment for social abilities at an early age in a longitudinal approach while not being limited to a one‐off assessment.…”

Section: Discussionsupporting

confidence: 82%

Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1

Plasschaert

Descheemaeker

Eylen

et al. 2014

American J of Med Genetics Pt B

100

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Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition. While considerable work has focused on cognitive functioning, several research groups also observed difficulties in social functioning as a prominent feature of NF1. These problems and the possible link between NF1 and Autism Spectrum Disorder (ASD) have become increasingly important in recent NF1 literature. The aim of the current study was to assess ASD characteristics in a hospital-based NF1 pediatric population (n = 82) using the standardized Children Social Behavior Questionnaire (CSBQ) and Social Responsiveness Scale (SRS) to account for the prevalence, severity, and nature of social problems. In a parallel study, comprehensive ASD assessment was performed in a subgroup of NF1 children with a strong suspicion of ASD (n = 31). Results indicate that NF1 children have more social problems than typical controls, more frequently reported above 8 years. The SRS shows that 63% is at risk of ASD symptoms. According to item analyses, most problems were observed on items measuring orientation in, understanding of and being tuned onto a social situation (CSBQ) and social cognition and communication (SRS). In the parallel study, 27 NF1 children were diagnosed with ASD. These children have a distinct phenotype compared to a heterogeneous ASD group, with pronounced social-communicative impairments and fewer restrictive/repetitive behaviors. This study provides a better understanding of social problems in NF1 and the phenotypical overlap with ASD symptomatology. Despite their willingness to engage with others, NF1 children with or without ASD encounter various difficulties in their social-communicative life.

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“…This moderately higher magnitude of internalizing symptoms in our cohort as compared to past studies could be related to a few factors, including sample characteristics or differences in psychometric properties of the measures used (BASC‐2 vs. CBCL). The most apparent discrepancy in scores on anxiety and depression measures across studies appears to be between our study and that of Klein‐Tasman et al (), which enrolled preschool‐aged children with NF1 (ages 3–6). Klein‐Tasman and colleagues found no significant parent‐rated group mean differences between the NF1 group and a typically developing comparison group for anxiety or depressive symptomatology on the BASC‐2.…”

Section: Discussioncontrasting

confidence: 72%

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

McNeill

Hudock

Foy

et al. 2019

American J of Med Genetics Pt A

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While neurofibromatosis type 1 (NF1) and Noonan syndrome (NS) are clinically distinct genetic syndromes, they have overlapping features because they are caused by pathogenic variants in genes encoding molecules within the Ras-mitogen-activated protein kinase signaling pathway. Increased risk for emotional and behavioral challenges has been reported in both children and adults with these syndromes. The current study examined parent-report and self-report measures of emotional functioning among children with NF1 and NS as compared to their unaffected siblings. Parents and children with NS (n = 39), NF1 (n = 39), and their siblings without a genetic condition (n = 32) completed well-validated clinical symptom rating scales. Results from parent questionnaires indicated greater symptomatology on scales measuring internalizing behaviors and symptoms of attention deficit hyperactivity disorder (ADHD) in both syndrome groups as compared with unaffected children. Frequency and severity of emotional and behavioral symptoms were remarkably similar across the two clinical groups. Symptoms of depression and anxiety were higher in children who were also rated as meeting symptom criteria for ADHD. While self-report ratings by children generally correlated with parent ratings, symptom severity was less pronounced. Among unaffected siblings, parent ratings indicated higher than expected levels of anxiety. Study findings may assist with guiding family-based interventions to address emotional challenges. K E Y W O R D Sanxiety, depression, emotional function, neurofibromatosis type 1, Noonan syndrome, RASopathies

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Cognitive and Psychosocial Phenotype of Young Children with Neurofibromatosis-1

Cited by 36 publications

References 59 publications

Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood

Development of emotional and behavioral problems in neurofibromatosis type 1 during young childhood

Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

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