Concurrent validity and agreement of Bayley‐4, AIMS, and HINE assessments in 1‐year‐old children
In this cross‐sectional study of children around 1‐year‐old, the Bayley‐4 showed concurrent validity and moderate to substantial agreement with the AIMS and the HINE in both clinical and home settings. Abstract Aim To examine concurrent validity between the Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley‐4) gross motor subtest ...
Weiyang Deng +14 more
wiley +1 more source
Accelerated long‐term forgetting in children with neurofibromatosis type 1
Abstract Aim To investigate the presence of accelerated long‐term forgetting after a 7‐day delay in children with neurofibromatosis type 1 (NF1), using an adapted verbal memory recall task, Experimental Word Recall Task (EWRT), and to examine its relationship with other cognitive abilities.
Jessica Habib +8 more
wiley +1 more source
Clinical case of family neurofibromatosis type I
Background. Neurofibromatosis is a group of orphan diseases with a wide spectrum of clinical presentation, which makes the disease difficult to diagnose. Pigmentation manifestations represent an early clinical sign in children with neurofibromatosis type
O. A. Inozemtsova +6 more
doaj +1 more source
Giant Plexiform Neurofibromatosis of the Thoracolumbar Region: A Case Report
Neurofibromas are tumours arising from connective tissue of the nerve. Cutaneous manifestations are generally seen in Neurofibromatosis Type 1 (NF1). Whereas, Neurofibromatosis Type 2 (NF2) has CNS manifestations.
Ritesh Ranjan +3 more
doaj +1 more source
Beyond protective factors and normal IQ in preterm children: More executive disorders than expected
Abstract Executive functions (EF) are vulnerable in preterm children. Owing to methodological issues, inconsistent findings have left some questions unresolved. This study implemented a theory‐guided, integrative EF assessment in preterm children. We also examined the impact of perinatal and sociodemographic features on EF disorder.
Olivier Cadeau +9 more
wiley +1 more source
A Case of the Variant Type Neurofibromatosis [PDF]
A case of neurofibromatosis in a 51 year old woman, with no other evidences of genetic defect, is described. Neurofibromatosis affects primarily cell growth of neural tissues and can cause tumors to grow on nerves. In the past, neurofibromatosis has been
최홍식, 김현직
core
Hearing Improvement after Bevacizumab in Patients with Neurofibromatosis Type 2 [PDF]
Background Profound hearing loss is a serious complication of neurofibromatosis type 2, a genetic condition associated with bilateral vestibular schwannomas, benign tumors that arise from the eighth cranial nerve.
Stemmer-Rachamimov, Anat +8 more
core +1 more source
A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson +10 more
wiley +1 more source
Building a precision therapeutics program at a tertiary care children's hospital
Pediatric Investigation, EarlyView.
Luke Hamilton +8 more
wiley +1 more source
Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2
Neurocutaneous syndromes, known as phakomatoses, encompass a diverse group of congenital conditions affecting the nervous system and skin, with neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) among the most clinically significant.
Christina Stylianides +6 more
doaj +1 more source

