Cognitive Function and Academic Performance in Children With Neurofibromatosis Type 1

Abstract

SUMMARY The authors evaluated 51 consecutive children with NF1 (aged eight to 16 years) to determine the frequency of intelectual impairment and learning disability due to NF1 alone, the profile of learning disabilities and the effect of clinical variables. 40 children completed the full assessment protocol. There was no support for a profile of predominantly visuoperceptual deficits in the NH population. There was no discrepancy between verbal and performance 1Q, and the deficits in function were wide ranging. Clinical variables such as age, sex. socio‐economic status, disease severity, macrocephaly and family history of NF1 were not associated with cognitive deficits. These results emphasise the need for developmental evaluation to be included in the routine assessment of children with NFT. RÉSUMÉ Difficultés spécifiques d'apprentissagc chez les enfants porteurs de neurofibromatose Les auteurs ont étudié consécutivement 51 enfants avec NFI (âgés de huit à 16 ans) pour préciser la fréquence des troubles intellectucls ei les difficultés d'apprentissage dûs à la seule NFI, le profile des difficultés d'apprentissage et l'effet des variables cliniques. Une évaluation complète fut conduite chez 40 enfants. II n'a pas été relevé dans la population NFI de données favorisant un profile marqué par un déficit visuoperceptif prédominant. II n'y avait pas de différence entre les échelles de QI verbal et performance ct le doniaine des déficits fonctionnels était très étendu. Les variables cliniques telles que l'âge, le sexe. la classe socio‐économique, la gravité de l'affection, la macrocéphalic et l'histoire familiale de NFI n'étaient pas associées à des déficits cognitifs. Ces résultats soulignent la nécessité d'inclure une évaluation du développement dans la surveillance de routine des enfants NFL ZUSAMMENFASSUNG Spezifische Lernprobleme bei Kindern mit Neurofibroinatose Die Autoren untersuchten 51 Kinder mil NFI (Alter acht bis 16 Jahre), urn die Häufigkeit von intellektuellen Störungen und Lernproblemen durch NFI allein, das Profil der Lernprobleme und den Einfluh klinischer Variablen zu beurteilen. 40 Kinder haben das gesamte Untaersuchungsprotokoll beendet. Bet den NFI Patienten fand sich kein Hinweis für spezifische Störungen der visuellen Perzeption. Es gab keinen Unterschied zwischen dem verbalen‐ und dem Handlungs‐IQ und die Funktionsausfälle waren weit gestreut. Die klinischen Variablen wie Alter, Geschlecht, sozioökonomischcr Status. Schweregrad der Erkrankung, Makrozephalie und Familienanamnese für NFI standen nicht im Zusammenhang mit kognilivcn Störungen. Durch diese Ergebnisse wird die Notwendigkeit einer Beurteilung der Entwicklung bei den Routineuntersuchungen von kindern mit NFI deutlich. RESUMEN Alteración espeeifica del aprendizaje en niños con neurofibromatosis Los autores evaiuaron 51 niños consecutivos con NF‐1 (de ocho a 16 años de edad) para determinar la frecuencia de la alteración intelectual y del aprendizaje y el e fee to de variables clínicas. 40 niños cumplieron con todo el protocolo. No se ...

Relationship between cognitive dysfunction, gait, and motor impairment in children and adolescents with neurofibromatosis type 1

“…The degree of impairment identified in our cohort is similar to that found in two previous studies of gross motor proficiency, in which 76 to 81% of children with NF1 were reported as displaying at least below average motor skills. 6,8 This is the first study, to our knowledge, to report on gait parameters in children with NF1. Age-related changes in gait were similar to those described in typically developing children, with increasing velocity, step time, step and stride length with decreasing cadence.…”

“…4,6,7 Early research in this area documented problems with manual dexterity, balance, and ball skills, with 32% of children exhibiting severe impairment of coordination skills. 8 More recently, Johnson et al compared children with NF1 with normative data on the Bruininks Oseretsky Test of Motor Proficiency, 2nd Edition (BOT-2). 6 Children with NF1 displayed significantly impaired motor skills across a number of domains; the largest effect sizes were observed for measures of balance, upper limb coordination, and running speed and agility.…”

“…The degree of impairment identified in our cohort is similar to that found in two previous studies of gross motor proficiency, in which 76 to 81% of children with NF1 were reported as displaying at least below average motor skills. 6,8 …”

Studies of age‐correlated features of cognitive‐behavioral development in children and adolescents with genetic disorders

“…In 31 children ages 6-16 years, they found mean VIQ ¼ 92.9 was significantly higher than PIQ ¼ 83.9. On the other hand, North et al [1994North et al [ , 1995, examined 40 children ages 8-16 years and found no significant differences between mean VIQ ¼ 92.6 and mean PIQ ¼ 95.4. However, North et al did find a bimodal distribution of IQ scores; and, that 18/40 (45%) of the children they evaluated performed at more than 2 years below chronological age on tests of reading accuracy, while 19 showed significant impairment on tests of reading comprehension.…”

A Functional Genomic Analysis of NF1-Associated Learning Disabilities

“…In addition to a variety of physical manifestations including benign and malignant brain tumors, NF1 patients may also experience cognitive difficulties that are often considered as hallmarks of this disease (Hofman et al, 1994;Cichowski and Jacks, 2001). Among cognitive impairments associated with NF1, learning disabilities (LD) manifested in 30-65% of NF1 children are especially problematic (Eliason, 1988;North, 1993;North et al, 1995;Ferner et al, 1996;Kayl and Moore, 2000).…”