P. Giovanardi-Rossi

Epilepsy in patients with pervasive developmental disorder not otherwise specified.

Data on epilepsy in pervasive developmental disorder not otherwise specified are few and scanty. Seventy-seven patients with pervasive developmental disorder not otherwise specified were compared with 77 with autistic disorder, matched for age and sex. The 2 groups were divided into 3 subgroups each: A, without electroencephalography (EEG) paroxysmal abnormalities or epilepsy; B, with EEG paroxysmal abnormalities without epilepsy; and C, with epilepsy. Mild mental retardation (P < .01), pathological neurological examination (P < .05), cerebral lesions (P < .01), abnormal EEG background activity (P < .001), and associated genetic pathologies (P < .01) were more common in pervasive developmental disorder not otherwise specified. Familial antecedents for epilepsy prevailed in subgroup C (P < .01). Epilepsy occurred in 35.1% of patients with pervasive developmental disorder not otherwise specified, with no statistically significant difference compared with autistic disorder. The mean age of seizure onset was earlier (2 years 8 months) in pervasive developmental disorder not otherwise specified (P < .000). Seizure outcome was better in autistic disorder. Genetic diseases and cerebral lesions should be investigated in pervasive developmental disorder not otherwise specified to clarify the etiological and clinical features.

Unusual side-effects due to clobazam: A case report with genetic study of CYP2C19

We describe the case of a 10-year-old girl with two epileptic seizures and subcontinuous spike-waves during sleep, who presented unusual side-effects related to clobazam (CLB) monotherapy. High plasma levels of N-desmethyl-clobazam (N-CLB), the major metabolite of CLB were detected. The patient and her parents underwent molecular analysis of the CYP2C19 gene, which may be implicated in the metabolism of this drug. Our patient presents one copy of the most common mutation (CYP2C19*2) affecting the activity of the isoenzyme and probably another rare or private mutation. CLB and N-CLB plasma level dosages and molecular analysis may be useful when a poor metabolic condition is suspected.

Epilepsy, Intelligence, and Psychiatric Disorders in Patients With Cerebellar Hypoplasia

The cerebellum is involved in motor and cognitive functions and behavior. Its role in controlling epileptic seizures has been demonstrated in the literature. Genetic factors can enhance epilepsy susceptibility when the cerebellum is damaged. We examined the occurrence and features of epilepsy, intelligence, and psychiatric disorders in 28 patients with cerebellar hypoplasia. We compared patients with (10; 35.7%) and without (18; 64.3%) epilepsy. The statistical evaluation showed a significant prevalence of familial antecedents for seizures in patients with epilepsy (P < .01); cerebral associated lesions and type of cerebellar hypoplasia did not influence the occurrence of epilepsy, which was partial in 80% of cases. Profound mental retardation prevailed in patients with epilepsy (P < .05). Both mental retardation (75%) and pervasive developmental disorders (17.8%) prevailed in our cases with respect to the general population (P < .000). Cerebellar hypoplasia in our sample seems to be an important risk factor for the occurrence of epilepsy, mental retardation, and psychiatric disorders. (J Child Neurol 2003; 18: 1—4).

Autism, macrocrania and epilepsy: how are they linked?

To evaluate the possible association of autistic disorder (AD), macrocrania and epilepsy, we performed a retrospective study comparing epileptic and non-epileptic AD patients with macrocrania, and AD patients with macrocrania to age- and sex-matched AD controls without macrocrania. We found macrocrania in 17.3% of 121 patients with AD. Epilepsy was not significantly more frequent in AD patients with macrocrania than in those without macrocrania. There were no significant differences in the other clinical characteristics studied except for epileptiform EEG abnormalities which were more often found in AD patients with epilepsy. AD with macrocrania and epilepsy is not a syndrome but may be a marker for a group of subjects with AD. A role for familial macrocrania needs further assessment.

Epilepsy in Chromosomal Abnormalities: An Italian Sample

Epilepsy is common in chromosomal abnormalities, but systematic studies are scanty. We describe an Italian sample of patients with chromosomopathies to establish epilepsy occurrence and clinical electroencephalographic (EEG) features. Forty-five patients with different types of chromosomal abnormalities were analyzed to examine different variables in patients with epilepsy (group 1) and without (group 2) and to compare the types of epilepsy in our cases with respect to a nonselected sample of Italian people with epilepsy. Epilepsy occurred in 51.1% (group 1) of cases and prevailed in autosomal abnormalities but without a statistical significance (P > .05). There was a prevalence of EEG paroxysmal abnormalities in group 1 (P < .0001); continuous spike-waves during sleep were observed in three cases. Profound mental retardation prevailed in group 1 (P < .001) and mild mental retardation in group 2 (P < .05). Generalized epilepsies prevailed significantly (P < .00001). A high-resolution karyotype should be undertaken in all patients with epilepsy presenting with mental retardation when an obvious etiology is not available. (J Child Neurol 2005;20:419—423).