Specific learning disability in children with neurofibromatosis type 1

Abstract

To determine whether previously reported areas of increased T2 signal intensity on MRI examination in children with neurofibromatosis type 1 (NF 1) are associated with deficits in development and learning common in this population, we evaluated 51 children with NF 1 (aged 8 to 16 years). Forty children completed the full assessment protocol (MRI, medical, psychometric, speech therapy, and occupational therapy assessments). The mean Full Scale IQ scores for the entire study population showed a left shift compared with the normal population, and the distribution of IQ scores was bimodal, suggesting that there are two populations of patients with NF 1--those with and those without a variable degree of cognitive impairment. There was no association between lower IQ scores and any clinical variable. Areas of increased T2 signal intensity unidentified bright objects (UBO+) were present in 62.5% of the study population, and their presence was not related to clinical severity, sex, age, socioeconomic status, macrocephaly, or family history of NF 1. However, compared with children without areas of increased T2 signal intensity (UBO-), the UBO+ group had significantly lower mean values for IQ and language scores and significantly impaired visuomotor integration and coordination. Children with areas of increased T2 signal intensity were at a much higher risk for impaired academic achievement. Children without increased T2 signal on MRI (UBO-) did not significantly differ from the general population in any measure of ability or performance. Areas of increased T2 signal on MRI represent dysplastic glial proliferation and aberrant myelination in the developing brain and are associated with deficits in higher cognitive function.(ABSTRACT TRUNCATED AT 250 WORDS)

Functional Connectivity Changes and Executive and Social Problems in Neurofibromatosis Type I

“…Brain manifestations include et al, 2005Brain manifestations include et al, , 2006North et al, 1994;Payne et al, 2011;Rowbotham et al, 2009;Roy et al, 2010). Social and behavioral problems include difficulties with social skills and communication, problems with forming friendships, rejection by peers, and social isolation.…”

Treatment of ADHD in neurofibromatosis type 1

“…While café-au-lait spots and neurofibromas are of mainly cosmetic significance, learning difficulties in children with NF1 may result in failure to achieve their full academic and social potential, and thus cause more serious problems , Dilts et al 1996, North et al 1997a). Previous studies have not revealed a specific profile of learning disabilities in children with NF1 (Eldridge et al 1989, Ferner 1994, Legius et al 1994, Moore et al 1994, Dilts et al 1996.…”

“…Hofman and coworkers (1994) found that at least 30% of their patients with NF1 could be classified as having ADHD while their non-affected siblings did not. It has also been suggested that behavioural symptoms in children with NF1 may possibly meet the diagnosis of attention-deficit disorder without hyperactivity , North et al 1995.…”

Emerging approaches toward the treatment of neurofibromatoses

“…No. 4 and unpredictable, and in some instances can remit spontaneously. This will make it important to have data on natural history, lest spontaneous cessation of tumor growth be mistakenly attributed to the effects of a drug being tested.…”