Identifying Symptoms of Distress in Youth Living with Neurofibromatosis Type 1 (NF1)

Wiener, Lori; Battles, Haven; Bedoya, Sima Zadeh; Baldwin, Andrea; Widemann, Brigitte C.; Pao, Maryland

doi:10.1007/s10897-017-0128-1

Cited by 20 publications

(19 citation statements)

References 51 publications

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“…Although clinically and genetically distinct, NF1, NF2, and SWN are all progressive over the lifetime and exhibit significant variability and uncertainty, which can present psychosocial challenges for individuals and families. For example, Wiener et al demonstrated that ‘the unpredictable, progressive and chronic nature of NF1, as well as the physical disfigurement, cognitive, and behavioral implications of the condition can have a profound negative impact on the psychological adjustment of children and adolescents’ (Wiener et al., 2018). The rate of progression, specific manifestations, and disease severity is principally unpredictable.…”

Section: Genetic Counseling Processmentioning

confidence: 99%

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

Radtke

Bergner

Goetsch

et al. 2020

Journal of Genetic Counseling

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The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF) or who have received a diagnosis of NF, including neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). Currently, there is no known standard approach to genetic counseling in NF. This resource may be useful in a number of different healthcare settings. 1.1.1 | Pediatric or adult genetic counseling session (general genetics or specialty clinic) These sessions may occur in conjunction with a diagnosing provider, such as a physician or nurse practitioner. • Diagnostic evaluation based on clinical features and/or family history.

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Section: Genetic Counseling Processmentioning

confidence: 99%

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

Radtke

Bergner

Goetsch

et al. 2020

Journal of Genetic Counseling

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“…In contrast to most of the autosomal dominant conditions, two copies of the NF1 gene must be altered to trigger tumour formation in neurofibromatosis type 1, as the mutation in the second copy of the NF1 gene occurs during a person’s lifetime in cells surrounding nerves [ 1 ]. It is not clear enough how mutations in the NF1 gene lead to the other features of neurofibromatosis type 1, such as café-au-lait spots and learning disabilities or autism [ 4 ]. On the other hand, it is established that children and adolescents with NF1 are at increased risk for wide-ranging behavioural, developmental, and cognitive impairments, all decreasing quality of life [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…It is not clear enough how mutations in the NF1 gene lead to the other features of neurofibromatosis type 1, such as café-au-lait spots and learning disabilities or autism [ 4 ]. On the other hand, it is established that children and adolescents with NF1 are at increased risk for wide-ranging behavioural, developmental, and cognitive impairments, all decreasing quality of life [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

Neurofibromatosis Type 1 with Massive Ventricular Polyposis: First Report in the Medical Literature

Tchernev¹,

Chokoeva²,

Wollina³

et al. 2018

Open Access Maced J Med Sci

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BACKGROUND::Neurofibromatosis type 1 (NF1) is a multisystemic disorder with genetic background, characterised by specific cutaneous findings, skeletal dysplasias, and growth of both benign and malignant nervous system tumours. NF1 is caused by mutations in the NF1 gene, situated in chromosome 17q11.2, with an autosomal dominant pattern of inheritance and clinical manifestation of neurofibromas, malignant peripheral nerve sheath tumour, optic and non-optic nerve gliomas, congenital heart disease, cardiovascular and cerebrovascular disease and orthopaedic disorders. The incidence of gastrointestinal manifestations of NF1 is relatively low, compared to neurological disorders, presenting approximately in 5 to 25% of the patient, but later in life.CASE REPORT::We present a patient with NF1, ventricular polyposis and attentional disorders with cognitive phenotype, while both of her daughters also present with cutaneous manifestations of NF1.CONCLUSION::To the best of our knowledge, this is the first reported case of NF1 with ventricular polyposis as a gastrointestinal manifestation in the mother and NF1 with no signs of inner organ involvement in both of her daughters.

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“…To date, no psychosocial disease-specific screening tool has been developed to assess NF1 patients [25]. In addition, available recommendations for the diagnosis and clinical management of these aspects have been only recently delineated [26].…”

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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Identifying Symptoms of Distress in Youth Living with Neurofibromatosis Type 1 (NF1)

Cited by 20 publications

References 51 publications

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis—Practice Resource of the National Society of Genetic Counselors

Neurofibromatosis Type 1 with Massive Ventricular Polyposis: First Report in the Medical Literature

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

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