التفاصيل البيبلوغرافية
| العنوان: |
The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 |
| المؤلفون: |
Cervi, Francesca, Saletti, Veronica, Turner, Katherine, Peron, Angela, Bulgheroni, Sara, Taddei, Matilde, La Briola, Francesca, Canevini, Maria Paola, Vignoli, Aglaia |
| المصدر: |
Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172 |
| بيانات النشر: |
Springer Science and Business Media LLC |
| سنة النشر: |
2020 |
| مصطلحات موضوعية: |
Pharmacology (medical), Genetics (clinical), General Medicine |
| الوصف: |
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%). ... |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1186/s13023-020-01488-4 |
| DOI: |
10.1186/s13023-020-01488-4.pdf |
| DOI: |
10.1186/s13023-020-01488-4/fulltext.html |
| الإتاحة: |
https://doi.org/10.1186/s13023-020-01488-4Test |
| حقوق: |
https://creativecommons.org/licenses/by/4.0Test ; https://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: |
edsbas.354C7B0C |
| قاعدة البيانات: |
BASE |
