Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1

Rietman, André B.; Vaart, Thijs van der; Plasschaert, Ellen; Nicholson, Bethany; Oostenbrink, Rianne; Krab, Lianne C.; Descheemaeker, Mie-Jef; Wit, Marie‐Claire Y. de; Moll, Henriëtte A.; Legius, Eric; Nijs, Pieter F. A. de

doi:10.1002/ajmg.b.32612

Cited by 18 publications

(31 citation statements)

References 27 publications

(36 reference statements)

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“…Parents in the study rated their children as having significantly greater symptomatology than children reported in their self‐ratings. This finding is consistent with other studies of children with NF1 (Krab et al, ; Rietman et al, ), as well as research that has looked more broadly at children with chronic illness and also healthy children with a sibling with chronic illness (Sharpe & Rossiter, ).…”

Section: Discussionsupporting

confidence: 91%

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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Section: Discussionsupporting

confidence: 91%

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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“…With regard to emotional and behavioral problems, some studies have evaluated children and adolescents with NF1 through the parents' compilation of Child Behavior Checklist (CBCL) questionnaires. Rietman et al [21] showed that of 183 subjects 32% fell in the clinical range, considering Total scores. Graf et al [22] identified problems predominantly in the internalizing domain of anxiety, depression, social withdrawal and somatic complaints.…”

Section: Discussionmentioning

confidence: 99%

“…In particular, cognitive deficits include a generalized downshifting Intelligence Quotient (IQ) with cognitive delay in about 4–8% of the patients [ 4 ], impairment in visuo-spatial skills in the majority of NF1 children [ 13 , 14 ], in specific academic domains of reading, spelling, and mathematics in up to 75% [ 15 , 16 ], and attention problems including ADHD in 60% [ 17 – 19 ]. Difficulties in social functioning with increased rates of ASD are seen in 11% of the patients [ 20 ], and mood/anxiety disorders [ 21 ] encompassing anxiety, depression, social withdrawal, and somatic complaints have been reported [ 22 ].…”

Section: Introductionmentioning

confidence: 99%

The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1

Cervi

Saletti

Turner

et al. 2020

Orphanet J Rare Dis

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Background Tuberous Sclerosis Complex (TSC) and Neurofibromatosis type 1 (NF1) are neurocutaneous disorders commonly characterized by neuropsychiatric comorbidities. The TAND (Tuberous Sclerosis Associated Neuropsychiatric Disorders) Checklist is currently used to quickly screen for behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations in patients with TSC. We administered the authorized Italian version of the TAND Checklist to the parents of 42 TSC patients and 42 age- and sex-matched NF1 patients, for a total of 84 individuals, aged 4–20 years. Aims of this study: - to test the overall usability of the TAND Checklist in NF1, −to compare the results between children and adolescents with TSC and NF1, and -to examine the association between neuropsychiatric manifestations and severity of the phenotype in terms of epilepsy severity in the TSC cohort and disease severity according to the modified version of the Riccardi severity scale in the NF1 cohort. Results TSC cohort: 35.6% had Intellectual Disability (ID), 11.9% Specific Learning Disorders (SLD), 50.0% Attention Deficit Hyperactivity Disorder (ADHD) and 16.6% anxious/mood disorder. 33.3% had a formal diagnosis of Autism Spectrum Disorder (ASD). Paying attention and concentrating (61.9%), impulsivity (54.8%), temper tantrums (54.8%), anxiety (45.2%), overactivity/hyperactivity (40.5%), aggressive outburst (40.5%), absent or delayed onset of language (40.5%), repetitive behaviors (35.7%), academic difficulties (> 40%), deficits in attention (61.9%) and executive skills (50.0%) were the most commonly reported problems. NF1 cohort: 9.5% had ID, 21.4% SLD, 46.6% ADHD, and 33.3% anxious/mood disorder. No one had a diagnosis of ASD. Commonly reported issues were paying attention and concentrating (59.5%), impulsivity (52.4%), anxiety (50.0%), overactivity/hyperactivity (38.1%), temper tantrums (38.1%), academic difficulties (> 40%), deficits in attention (59.5%), and executive skills (38.1%). Neuropsychiatric features in TSC vs NF1: Aggressive outburst and ASD features were reported significantly more frequently in TSC than in NF1. Neuropsychiatric manifestations and phenotype severity: Depressed mood, absent or delayed onset of language, repetitive language, difficulties in relationship with peers, repetitive behaviors, spelling, mathematics, dual-tasking, visuo-spatial tasks, executive skills, and getting disoriented were significantly different among TSC patients with different epilepsy severity. No statistically significant differences in the NF1 subgroups were noted for any of the items in the checklist. Conclusion The TAND Checklist used for TSC is acceptable and feasible to complete in a clinical setting, and is able to detect the complexity of neuropsychiatric involvement in NF1 as well. NF1 is mainly characterized by an ADHD profile, anxiety problems and SLD, while ASD features are strongly associated with TSC. In conclusion, the TAND Checklist is a useful and feasible screening tool, in both TSC and NF1.

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“…The eff ect of dopamine in these disorders has also been explored. Further there are att empts to include social networks in aiding patients and their parents to bett er understand the diffi culties and reduce their isolation (26)(27)(28). Results of the study concerning emotional and behavioural problems in children and adolescents with NF 1 (26) showed that att entional problems were associated with lower verbal IQ, male gender, younger age and ADHD-symptoms.…”

Section: Cognitive Diffi Culties and Neurofi Bromatosis Typementioning

confidence: 99%

“…Further there are att empts to include social networks in aiding patients and their parents to bett er understand the diffi culties and reduce their isolation (26)(27)(28). Results of the study concerning emotional and behavioural problems in children and adolescents with NF 1 (26) showed that att entional problems were associated with lower verbal IQ, male gender, younger age and ADHD-symptoms. A systematic review of literature regarding behaviour of children and adolescents with NF1 show signifi cant alterations in language, reading, visuospatial skills, motor function, executive function, att ention, behaviour, emotion and social skills.…”

Section: Cognitive Diffi Culties and Neurofi Bromatosis Typementioning

confidence: 99%

Psychiatric disorders in patients with neurofibromatosis

et al. 2019

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The "neurofi bromatoses" (NFs) are a group of distinct genetic disorders that are commonly associated with the appearance of nerve tumours. They include NF1, NF2 and schwannomatosis, with the NF1 or von Recklinghausen disease being the most common form. All these disorders are dominantly inherited with a high rate of new mutation and variable expression. It is typically regarded as a cancer predisposition syndrome; however the most common complication of NF1 in childhood is impairment in academic achievement and cognition with att entional, executive, language and visuospatial functions frequently aff ected. This paper therefore, att empts to emphasize the existence and importance of psychological disorders and diffi culties in people with NF1. Early detection of existing psychiatric disorders in NF1 patients opens the possibility of early treatment and bett er quality of life. In this study an overview of the latest fi ndings regarding mental disorders in NF1 patients is given. The majority of studies to date have based their investigation on cognitive impairments whose frequency is high in NF1 patients. Other investigations describe the problems of socialization, quality of life and the possibility of medical treatment. It is important that specialists of diff erent areas of expertise have a clear overview of all mental disorders and diffi culties that may occur in people aff ected by this disease. The importance of a multidisciplinary approach to treatment is also emphasized, which will lead to more successful forms of treatment and improve the quality of life of patients with NF1.

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Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1

Cited by 18 publications

References 27 publications

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome

The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1

Psychiatric disorders in patients with neurofibromatosis

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