scholarly journals Social-emotional Functioning of Children and Adolescents With Neurofibromatosis Type 1 and Plexiform Neurofibromas: Relationships With Cognitive, Disease, and Environmental Variables

2012 ◽  
Vol 37 (7) ◽  
pp. 713-724 ◽  
Author(s):  
S. Martin ◽  
P. Wolters ◽  
A. Baldwin ◽  
A. Gillespie ◽  
E. Dombi ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Neurofibromatosis Type 1 ◽  
Environmental Variables ◽  
Emotional Functioning ◽  
Neurofibromatosis Type ◽  
Social Emotional ◽  
Plexiform Neurofibromas ◽  
Social Emotional Functioning

scholarly journals NFB-14. PSYCHOSOCIAL OUTCOMES IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 AND PLEXIFORM NEUROFIBROMAS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii420-iii420
Author(s):  
Sudarshawn Damodharan ◽  
Paige Mission ◽  
Diane Puccetti
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Phenotypic Variability ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Attention Problems ◽  
Social Emotional ◽  
Plexiform Neurofibromas ◽  
Peripheral Nerve Sheath Tumors ◽  
Wide Range

Abstract OBJECTIVE This case series seeks to examine neurocognitive outcomes, social-emotional functioning, and family burden in young children diagnosed with Neurofibromatosis, type 1 (NF1) with early growing plexiform neurofibromas (PNFs). BACKGROUND Neurofibromatosis, type 1 (NF1) is a common predisposing chronic disease arising in early childhood, with an incidence of approximately 1:3000. Though NF1 displays a wide range of phenotypic variability, the primary feature of the disease is peripheral nerve sheath tumors called neurofibromas. Less is well known regarding the broader neurocognitive and social-emotional profile in presentations with more complex tumor growths, namely PNFs, which are present in at least half of the NF1-affected population. METHODS Participants with NF1 and PNFs (n=2) aged 6-7years completed comprehensive neuropsychological evaluations and parents completed measures of quality of life, social-emotional/behavioral functioning of child, parental stress, family adaptability, and family cohesion. RESULTS Outcomes suggest broad neurocognitive dysfunction (e.g., executive functioning deficits, attention problems, visual-motor delays, and poor motor coordination), social-emotional challenges (e.g., symptoms of anxiety and depression, and poor social skills), and familial distress. CONCLUSIONS Findings indicate the value of early and frequent monitoring of children with PNFs in medical systems and multi-disciplinary teams, and the importance of early intervention for both children and families.

scholarly journals NCOG-14. PSYCHOSOCIAL OUTCOMES IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 AND PLEXIFORM NEUROFIBROMAS

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii132-ii132
Author(s):  
Diane Puccetti ◽  
Paige Mission ◽  
Shawn Damodharan
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Phenotypic Variability ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Attention Problems ◽  
Social Emotional ◽  
Plexiform Neurofibromas ◽  
Peripheral Nerve Sheath Tumors ◽  
Wide Range

Abstract OBJECTIVE This case series seeks to examine neurocognitive outcomes, social-emotional functioning, and family burden in young children diagnosed with Neurofibromatosis, type 1 (NF1) with early growing plexiform neurofibromas (PNFs). BACKGROUND Neurofibromatosis, type 1 (NF1) is a common predisposing chronic disease arising in early childhood, with an incidence of approximately 1:3000. Though NF1 displays a wide range of phenotypic variability, the primary feature of the disease is peripheral nerve sheath tumors called neurofibromas. Less is well known regarding the broader neurocognitive and social-emotional profile in presentations with more complex tumor growths, namely PNFs, which are present in at least half of the NF1-affected population. METHODS Participants with NF1 and PNFs (n=2) aged 6-7years completed comprehensive neuropsychological evaluations and parents completed measures of quality of life, social-emotional/behavioral functioning of child, parental stress, family adaptability, and family cohesion. RESULTS Outcomes suggest broad neurocognitive dysfunction (e.g., executive functioning deficits, attention problems, visual-motor delays, and poor motor coordination), social-emotional challenges (e.g., symptoms of anxiety and depression, and poor social skills), and familial distress. CONCLUSIONS Findings indicate the value of early and frequent monitoring of children with PNFs in medical systems and multi-disciplinary teams, and the importance of early intervention for both children and families.

scholarly journals Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group

2020 ◽  
Vol 13 ◽  
pp. 2632010X2092893
Author(s):  
Alessandra Santos ◽  
Mauro Geller ◽  
Spyros Mezitis ◽  
Allan E Rubenstein ◽  
Lisa Oliveira ◽  
...  
Keyword(s):  
Vitamin D ◽  
Children And Adolescents ◽  
Neurofibromatosis Type 1 ◽  
Sun Exposure ◽  
Neurofibromatosis Type ◽  
Age Group ◽  
Plexiform Neurofibromas ◽  
Vitamin D Levels ◽  
Cutaneous Neurofibromas

Introduction: Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. Some clinical manifestations are present at birth, while some develop during childhood, and others can occur at any age. Given the early age at which patients develop clinical features, diagnosis is often made during childhood. The most prevalent features of NF1 are café au lait spots, dermal and plexiform neurofibromas, and learning disability. A variety of skeletal problems may be seen in NF1, including scoliosis, short stature, and pseudoarthrosis. Reduced skeletal bone mass has been documented to be a common phenomenon in children and adults with NF1. Decreased serum 25-hydroxyvitamin D (vitamin D) levels have been noted in adults and children with NF1 and have been reported to be inversely correlated with the number of dermal neurofibromas in adults. However, the actual correlation of vitamin D level to bone density and dermal neurofibroma number in children with NF1 remains unclear. Objectives: The primary objective of this study was to evaluate vitamin D levels among children and adolescents with NF1. The secondary objective was to describe the levels of vitamin D among children and adolescents with NF1, to verify in which age group there is a higher frequency of vitamin D alterations, and to explore vitamin D level correlations between age, gender, sun exposure, number of neurofibromas, and number of plexiform neurofibromas. Methods: This was an observational, cross-sectional, hospital-based study. We obtained a convenience sample of individuals with confirmed diagnosis of NF1 from patients attending the Medical Genetics Service of the IPPMG-UFRJ and Santa Casa de Misericórdia of Rio de Janeiro over a 24-month period. We evaluated vitamin D levels in blood samples of patients with NF1 by a chemiluminescent immunoassay method, and we correlated the results with gender, age, number of neurofibromas, number of plexiform neurofibromas, and satisfactory sun exposure. Results: Of the 55 patients, 28 (50.9%) were female and 27 (49.1%) were male. Patient ages ranged from a minimum of 1.2 to a maximum of 19.6 years (mean age 10.95 years) and the median was 11.11 years. Median and mean body mass index (BMI; z score) were -0.09 (minimum value -1.63 and maximum of 4.62) and 0.16, respectively. The mean value of vitamin D was 30.82 ng/mL (±12.31) and the median was 29 ng/mL (minimum value of 10.40 ng/mL and maximum of 79.19 ng/mL). Conclusions: The levels of vitamin D did not differ according to gender, age group, or the presence or number of cutaneous neurofibromas. Among patients with adequate sun exposure, there was a higher incidence of sufficient serum vitamin D levels. Patients with cutaneous neurofibromas in the 0 to 11 age group had a greater tendency to vitamin D sufficiency in relation to patients aged 11 to 19 years.

scholarly journals Activity of Selumetinib in Neurofibromatosis Type 1–Related Plexiform Neurofibromas

2016 ◽  
Vol 375 (26) ◽  
pp. 2550-2560 ◽  
Author(s):  
Eva Dombi ◽  
Andrea Baldwin ◽  
Leigh J. Marcus ◽  
Michael J. Fisher ◽  
Brian Weiss ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas
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