Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Abstract

Patient education and sensitization to worrisome signs and symptoms such as progressive severe pain (MPNST), changes in tumor volume (MPNST), new, unexplained neurologic symptoms (MPNST, brain tumors), and diaphoresis/palpitations (pheochromocytoma) are important. Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care coordination with, a specialized NF1 clinic.

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

“…No longer a disorder familiar only to pediatricians, endocrinologists, and cardiologists, Turner syndrome is now more widely encountered by primary care providers and other internal medical specialists who therefore need to be well‐informed of their medical needs. There is great value in collecting and sharing longitudinal information as demonstrated by recent reviews about other syndromes including holoprosencephaly (Weiss et al, ); neurofibromatosis (Stewart, Korf, Nathanson, Stevenson, & Yohay, ); Marfan syndrome (Pyeritz, ); and Klinefelter syndrome (Gravholt et al, ).…”

Cognitive Issues Experienced by Individuals Living with Neurofibromatosis

“…One of the more consistent cognitive findings in NF1 in children is that overall IQ is slightly lower than the normal population. That is, studies investigating IQ have placed the mean overall IQ approximately 10 points lower than normative sample [6,29,30]. This finding has been documented when compared to siblings controlling for environmental influences [30].…”

“…That is, studies investigating IQ have placed the mean overall IQ approximately 10 points lower than normative sample [6,29,30]. This finding has been documented when compared to siblings controlling for environmental influences [30]. Hyman et al [6] compared cognitive performance of 81 children with NF1 to 49 sibling controls.…”

Introducing in AJMG Part A: Genetic Syndromes in Adults

“…Such conditions have typically been described at relatively young ages; however, patients and families almost always have questions concerning prognosis, future health outcomes, and life expectancy. Publications for some adult patient groups exist, including reports for Turner syndrome (Elsheikh, Dunger, Conway, & Wass, ), deletion 22q11.2 syndrome (Fung et al, ), neurofibromatosis type 1 (Stewart, Korf, Nathanson, Stevenson, & Yohay, ), and a few others. For most disorders, such critical information is sparse or entirely lacking, creating uncertainty and anxiety for families, and leading to suboptimal medical care.…”