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In this study we compare the peculiarities of psychopathological risk in children with partial epilepsy versus children with chronic illness. Sixteen children affected by epilepsy with partial seizures, symptomatic or cryptogenetic (group A), are compared with 16 children affected by diabetes mellitus type 1 (group B) and with 16 early treated congenital hypothyroid children (group C). For the valuation we have used: 1) Rutter scales for parents; 2) questionnaire on maternal attitude towards epilepsy, modified for diabetes and hypothyroid children; 3) anamnestic interviews for epileptic patients; 4) individual observations. We have emphasized that: 1) the quality of life in children with epilepsy and their families is poorer compared to the ones of the other chronically ill children; 2) the attack is the most characterising factor of life quality of both group A and group B; 3) both group A and group B show an important anxiety for cognitive and behavioural disturbances; 4) in epilepsy families several factors contribute to the increased anxiety towards social life: occurrence of seizures, side effects of drugs, real or supposed underlying encephalopathy.

The authors present the case of a child with partial trisomy of the long arm of chromosome 6 who was observed aged between 1 and 5 months and 5 years and 5 months. The kariotype shows a duplication of the distal tract (6q22.36-->qter) deriving from the imbalance of a maternal malsegregation. The phenotype is that characteristic of the syndrome: microbrachycephalia with a high and prominent forehead, "full" orbits, exophthalmos, antimongoloid palperbral fissures, hypertelorism, flattened root of the nose, antiverted nostrils, small mouth with thin lips, micrognathy, auricles with a low implantation, short and thick neck with anterior palmature, low implantation of hair at nape, reduced diameter of chest, articular retraction, clinodactilia of 5th finger, bilateral single palmar groove, hypospadia. Weight, height and cranial circumference were below the 3rd percentile. The cases of dup (6q) reported in the literature generally describe similar somatic characteristics so much so that these may represent a syndrome. However, there is considerable variation in the level of visceral and cerebral impairment, only partly attributable to the degree of chromosome imbalance. The general conditions of the probabd were good and there was no malformation of internal organs. Magnetic resonance scan of the brain showed a slight increase in the volume of the ventricular system and a slight dilatation of the subarachnoid spaces with a dysmorphic cortical pattern.(ABSTRACT TRUNCATED AT 250 WORDS)

Some chromosomal abnormality syndromes carry a higher risk of seizures than that found in the general population. Down's syndrome is considered to be the first and the most frequent chromosomal abnormality causing mental retardation. In spite of numerous reports and epidemiological surveys, the outcome of epileptic syndromes in patients with Down's syndrome (DS) is still largely unknown. We retrospectively studied 34 DS patients with epilepsy (14M; 20F). Epileptic syndromes were classified as: infantile spasms, 10 cases, i.e. 31%; Lennox-Gastaut syndrome, 5 cases, 15.5%; symptomatic generalized epilepsy, 1 case; idiopathic generalized epilepsy, 6 cases, 17.6%; partial symptomatic epilepsy, 10 cases, i.e. 31%. In 2 patients the epilepsy was unclassifiable. In all the patients the following evolutive particularities were noted: a) the infantile spasms to have a relatively mild prognosis, as 8/10 patients remained seizure-free, 3 of whom without treatment; b) no patient experienced febrile convulsions prior to the onset of epilepsy; c) Lennox-Gastaut syndrome had a relatively late onset (mean age 10 years, range 8-11.5); d) 7 patients (20.6%) developed reflex seizure. The fragile X syndrome is considered to be the second most frequent chromosomal abnormality causing mental retardation. The prevalence of epilepsy varies from 9.1% to 45% in the different series. In order to evaluate the prevalence rate of epilepsy and the previously hypothesized association with a particular electroclinical picture, we retrospectively studied 90 fragile X syndrome patients (80M, 10F) aged 4 to 25 years (mean age 13y6m).(ABSTRACT TRUNCATED AT 250 WORDS)