RESUMEN
BACKGROUND: Congenital hyperinsulinism (CHI) is hallmarked by persistent hypoketotic hypoglycemia in infancy. In the majority of all patients, CHI is caused by mutations in the KATP channel genes ABCC8 and KCNJ11, but other genes in the insulin-regulatory pathway have also been described. Repeated episodes of hypoglycemia include an increased risk of seizures and intellectual disability. So far, controlled psychometric studies on cognitive, motor, speech, and social-emotional outcome of CHI patients are missing. Until now, neurodevelopmental long-term outcome in CHI patients has only been measured by questionnaires, self-, parental-, or caregiver-administered instruments. METHODS: This is a prospective study of 60 patients (median age 3.3 years, range 3 months to 57 years): 48 with a diffuse, 9 with a focal, and 3 with an atypical histology. Neurodevelopmental outcome was assessed using standardized psychological tests and questionnaires. RESULTS: 28 of 60 patients showed developmental delay (46.7%). 9 of 57 patients had cognitive deficits (15.8%), 7 of 26 patients had speech problems (26.9%), and 17 of 44 patients had motor problems (38.6%). In 5 of 53 patients, social-emotional problems were reported. Outcome and the underlying genetic defect were not correlated. CONCLUSIONS: Motor problems seem to be prominent in CHI patients. Despite a high incidence of developmental delay, a permanent cognitive defect was only detectable in 9 of 58 patients.
Asunto(s)
Cognición , Disfunción Cognitiva , Hiperinsulinismo Congénito , Trastornos Motores , Trastornos del Habla , Adolescente , Adulto , Niño , Preescolar , Disfunción Cognitiva/epidemiología , Disfunción Cognitiva/fisiopatología , Disfunción Cognitiva/psicología , Hiperinsulinismo Congénito/epidemiología , Hiperinsulinismo Congénito/fisiopatología , Hiperinsulinismo Congénito/psicología , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Trastornos Motores/epidemiología , Trastornos Motores/fisiopatología , Trastornos Motores/psicología , Estudios Prospectivos , Trastornos del Habla/epidemiología , Trastornos del Habla/fisiopatología , Trastornos del Habla/psicologíaRESUMEN
Advances in imaging and surgical techniques allow a complete cure for children with focal-type congenital hyperinsulinism (CHI). In contrast, management of diffuse-type CHI remains a matter of controversy. To prevent hypoglycemic brain damage, extensive surgery has been recommended in the past, resulting in diabetes. On the basis of 2 data sets of patients with congenital hyperinsulinism, the German registry for CHI with 235 patients (ages 1 day to 19 years) and the diabetes treatment register (Diabetes Patienten-Verlaufsdokumentationssystem initiative), a follow-up study was initiated for diabetes mellitus and the intellectual and physical development as well as motor function. In our ongoing study, we investigated 20 patients with CHI (12 male, mean ages 9.9 years). Six of 20 patients had undergone subtotal pancreatectomy. In early infantile development (0-3 years) we observed a trend to motor and speech delay. In early childhood (2.5-7 years) there appeared a trend to an advantage of results of nonverbal tasks compared with verbal tasks. Before 1990 most patients (â¼75%) were treated by subtotal pancreatectomy; since 2000, a more conservative approach is obvious (4/68). All patients with diabetes (n = 25) developed the condition after undergoing subtotal pancreatectomy. No spontaneous manifestation of diabetes was noted before adulthood. There was a wide range of age (0-17.7 years) at manifestation indicating a long period during which glucose tolerance is compensated. Compared with >40.000 children with type 1 diabetes mellitus from the Diabetes Patienten-Verlaufsdokumentationssystem registry, we found significant differences with a tendency for being overweight as well as small stature. Mean daily insulin dose and HbA1c was comparable in both groups.