Early testing for Huntington disease in children: pros and cons.
We report 2 young children who are examples of the consequences of premature testing for Huntington disease. Premature testing of a child or fetus carries complex medical and psychological issues to both the child and the family that need to be considered and explored more than in an adult with Huntington disease. We suggest that a child at risk for juvenile Huntington disease not be tested until symptoms are progressive and consistent with the disease and all other mimickers are excluded. When testing is indicated, a multidisciplinary approach is essential to educate the family about the risks and benefits of testing and improve their coping skills when the final diagnosis is made.
Toufexis
Megan
M
Department of Psychiatry and Behavioral Medicine, University of South Florida, College of Medicine, Tampa, Florida, USA. mtoufexi@health.usf.edu
Gieron-Korthals
Maria
M
D000223:Adaptation, Psychological; D001293:Attitude to Death; D002675:Child, Preschool; D017281:Cost of Illness; D003657:Decision Making; D003863:Depression / Q000209:etiology; D042241:Early Diagnosis; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods; D005817:Genetic Counseling / Q000523:psychology / Q000592:standards; D020022:Genetic Predisposition to Disease / Q000523:psychology; D005820:Genetic Testing / Q000941:ethics / Q000523:psychology* / Q000592:standards*; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics* / Q000523:psychology; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D010348:Patient Care Team / Q000592:standards; D010353:Patient Education as Topic; D010817:Physician-Patient Relations; D011296:Prenatal Diagnosis; D011379:Prognosis; D011788:Quality of Life; D018570:Risk Assessment; D012640:Seizures / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D012944:Social Support