Neurofibromatosis 1: Psychiatric and somatic aspects. A 12-year follow-up of adult patients in Sweden

Abstract

There is a shortage of follow-up studies of Neurofibromatosis type 1 (NF1),an autosomal dominantly inherited disorder. The population-based study inGöteborg in 1978 has been used for a 12-year follow-up of 70 NF1 patients.Our purpose was to study the impact of NFI on psychiatric and somatichealth.Survival and life expectancy were estimated by using the Swedish populationstatistics. Clinical symptoms registered in the initial study in 1978 wereanalyzed in relation to mortality. Malignant and benign tumors were studiedusing the Swedish Cancer Registry. Medical records, death certificates andbiopsies were examined. Heart rhythms were studied by a 12-lead ECGfollowed by Holter recordings.The Comprehensive Psychopathological Rating Scale (CPRS) was used andpsychiatric diseases were assessed by the Diagnostic and Statistical Manualof Mental Disorders 3rd. ed. (DSM-III-R). Control persons were matched forage, sex and education. The Karolinska Scales of Personality (KSP) and theSelf Evaluation Scale (SES) were used. Neuropsychology was studied by meansof the Dureman Sälde Battery, the Halstead-Reitan Test Battery and theBenton Visual Retention Test.The results show a considerably reduced life expectancy in the 70 NFlpatients and an increased mortality (p<0.001). Mean age of living wasreduced with about 15 years. There was a significantly increased numher ofmalignant tumors reported in the NFI cohort p<0.001). Malignancy (55%) wasthe main reason for death followed by NFI related complications (27%).Hypertension was associated with increased mortality. NFl patients did nothave any excess of arrhythmias.NFI was found to have a significant influence on psychiatric symptoms andpersonality variables. Mental illness was found in 1/3 of the patients.Dysthymia was the most common diagnosis. No significant progress was foundafter a 12-year period. The NFI patients without psychiatric diagnosisoutperformed the healthy controls in a positive self-evaluafion. The NFIpatients displayed a variety of neuropsychological impairments.The great impact of NF1 on psychiatric symptoms, neuropsychologicalfunctions and personality variables was a striking result. The manymalignant tumors and the reduced life expectancy add to the psychologicalburden of NFI. Further long-term follow-up studies are needed.