Learning Disabilities in Neurofibromatosis 1

Gutmann, David H.

doi:10.1001/archneur.56.11.1322

Cited by 18 publications

(10 citation statements)

References 18 publications

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“…In contrast, specific learning disabilities are observed in as many as 40% to 60% of affected children, 12,34 and impaired performance on at least 1 test of academic achievement is present in 65% of children with NF1. 33 Deficits in visual-spatial-perceptual skills can result in reading and spelling difficulties.…”

Section: Complicationsmentioning

confidence: 95%

Health Supervision for Children With Neurofibromatosis

Hersh¹

2008

Pediatrics

161

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Neurofibromatosis 1 is a multisystem disorder that primarily involves the skin and nervous system. Its population prevalence is 1 in 3500. The condition usually is recognized in early childhood, when cutaneous manifestations are apparent. Although neurofibromatosis 1 is associated with marked clinical variability, most affected children do well from the standpoint of their growth and development. Some features of neurofibromatosis 1 are present at birth, and others are age-related abnormalities of tissue proliferation, which necessitate periodic monitoring to address ongoing health and developmental needs and to minimize the risk of serious medical complications. This clinical report provides a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of neurofibromatosis 1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the growth, development, and health of an affected child.

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Section: Complicationsmentioning

confidence: 95%

Health Supervision for Children With Neurofibromatosis

Hersh¹

2008

Pediatrics

161

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“…Eine viel diskutierte Hypothese sieht ihre Ursprünge in fokalen zerebralen T 2 -Signalanhebungen, so genannten ¹unidentified bright objectsª (UBOs), die sich kernspintomographisch bei etwa 60 ± 70 % aller Kinder mit NF1 nachweisen lassen [10]. UBOs stellen sich mikroskopisch als Areale mit flüssigkeitshaltigen Vakuolen dar, die sich hauptsächlich in den Stammganglien, im Hirnstamm und Zerebellum sowie im Bereich der Sehbahn finden [20]. Als möglicher Schädigungsmechanismus wird ein vermehrter Myelinstoffwechsel mit nachfolgender axonaler Schädigung vermutet, der zu Diskonnektionen in kognitiven Systemen führen könnte [21].…”

Section: Diskussionunclassified

Kognitive Einschränkungen bei erwachsenen Patienten mit Neurofibromatose Typ 1

Uttner

Wahlländer-Danek

Danek

2003

Fortschr Neurol Psychiatr

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Cognitive impairment is a common phenomenon in children with neurofibromatosis type 1 (NF1), but only little is known about its nature and frequency in adult NF1-patients. Using a comprehensive psychometric test battery, we investigated 20 patients with NF1 and 20 age and gender matched control subjects without neurological diseases. Results showed slightly lowered test scores in patients compared with controls but no specific intellectual impairment. On a computerized test of selective attention, the NF1-group had significant slower reaction times. Also, three out of four memory tests and a test of visuoconstructive abilities showed poorer test results in the NF1-patients. Executive functions however were not affected. The findings agreed well with the test profile in NF1-children and supported the idea of a continuum between childhood and adulthood. Observations are discussed in the context of studies investigating the association of cognitive deficits with either intracranial lesions or alterations in the neurofibromin expression.

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“…Mutations in the human NFI gene are characterized by benign but disfiguring tumors of the peripheral nervous system, as well as increased incidence of malignant peripheral nerve sheath tumors and central nervous system tumors (1). About 40% of children with NFI exhibit learning deficits (2,3), and mouse models of NFI recapitulate both the tumor and learning phenotypes (4 -6). In Drosophila, Nf1 mutations affect circadian rhythms (7), body size (8), responses to neuropeptides (9) and olfactory learning (10).…”

Section: Introductionmentioning

confidence: 99%

Functional Analysis of Human NF1 in Drosophila

Zhong¹

2007

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Public reporting burden for this collection of information is estimated to average 1 hour per response, including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing this collection of information. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing this burden to Department of Defense, Washington Headquarters Services, Directorate for Information Operations and Reports (0704-0188), 1215 Jefferson Davis Highway, Suite 1204, Arlington, VA 22202-4302. Respondents should be aware that notwithstanding any other provision of law, no person shall be subject to any penalty for failing to comply with a collection of information if it does not display a currently valid OMB control number. PLEASE DO NOT RETURN YOUR FORM TO THE ABOVE ADDRESS. REPORT DATE (DD-MM-YYYY) 01-01-20072. REPORT TYPE (From -To) Annual DATES COVERED SPONSOR/MONITOR'S REPORT NUMBER(S) DISTRIBUTION / AVAILABILITY STATEMENTApproved for Public Release; Distribution Unlimited SUPPLEMENTARY NOTES ABSTRACTNeurofibromatosis type 1 (NFI) is characterized by benign but disfiguring skin tumors, pigmentation defects and learning disabilities, as well as increased risk of brain tumors. The NF1 tumor suppressor protein (neurofibromin) inhibits Ras, a protein that is overactive in a wide variety of human cancers. NF1 also controls levels of cyclic AMP, an important intracellular messenger involved in cell growth and learning. Over last year, we continue to examine the structural basis for its role in controlling multiple signal transduction pathways and roles in learning and memory formation. In addition to previously identified GAP related domain, we showed that the C-terminal is critical in mediating G protein dependent activation of adenylyl cyclase. We are now examining the functional roles of these two domains in learning and memory. SUBJECT TERMSNo subject terms provided. Yi Zhong Appendices…………………………………………………………….……………..10-21 SECURITY CLASSIFICATIONYi Zhong -4 - IntroductionThe NF1 protein has a central GTPase-activating protein-related domain (GRD), which catalyzes the intrinsic GTPase activity of Ras protein (Viskochil et al., 1993). In NF1 patients as well as mammalian animal models, tumor and learning phenotypes observed have been attributed to hyperactivation of Ras (Declue et al., 1992;Costa et al., 2002). However, NF1 is also involved in the regulation of adenylyl cyclase (AC)/cAMP pathway, and this regulation is important for neuropeptide responses and learning (Guo et al., 1997;Guo et al., 2000). The major hypothesis of this proposal is that distinct regions of the NF1 protein control Ras/NF1 or Gsα/NF1 stimulated adenylyl cyclase (AC) activity, and that these regions can be readily identified by examining the phenotypes of mutated human gene expressed in Drosophila NF1 null mutants. We also propose that Gsα/NF1-activated AC pathway mediates learning or short-term memor...

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Learning Disabilities in Neurofibromatosis 1

Cited by 18 publications

References 18 publications

Health Supervision for Children With Neurofibromatosis

Health Supervision for Children With Neurofibromatosis

Kognitive Einschränkungen bei erwachsenen Patienten mit Neurofibromatose Typ 1

Functional Analysis of Human NF1 in Drosophila

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