Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

OBJECTIVES: SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI. METHODS: All patients fulfilled the criteria for SMEI. The authors analyzed all patients for SCN1A mutations using denaturing high performance liquid chromatography. If a patient's chromatogram was abnormal, the authors sequenced the gene in the patient and both parents. RESULTS: SCN1A mutations were identified in 33 patients (35%). Most mutations were de novo, but were inherited in three patients. Parents carrying the inherited mutations had either no symptoms or a milder form of epilepsy. A greater frequency of unilateral motor seizures was the only clinical difference between patients with SCN1A mutations and those without. Truncating mutations were more frequently associated with such seizures than were missense mutations. The percentage of cases with family history of epilepsy was significantly higher in patients with SCN1A mutations. CONCLUSIONS: Unilateral motor seizures may be a specific clinical characteristic of SMEI caused by SCN1A mutations. Ten percent of SCN1A mutations are inherited from an asymptomatic or mildly affected parent, suggesting that SMEI is genetically heterogeneous. The increased frequency of familial epilepsy indicates that other genetic factors may contribute to this disorder.

[Functional enuresis. Which is the border between the organic and the pathological?]. / Enuresi funzionale. Quale confine tra organico e psicologico?

The importance of the psychological aspects in treating the enuretic patient is often underestimated. The author reports 13 patients with functional enuresis, whose emotional implications of the symptom are very clear. In 7 patients a psychodiagnostic evaluation, with colloquia, tests, play and drawing, was carried out: the personality and family features of the children resulted similar to those described in literature (a too close mother-child relationship preventing child's separation, with both aggressiveness against mother and regression; depression; a difficult sexual identification). In 3 patients a psychotherapy lasting more than 6 months was undertaken. Psychologic care and short psychotherapy were always useful to relieve the neurotic symptoms connected with enuresis and to better child's personality; in some patients, they were not completely successful on the symptom, because this persisted although the number of episodes was reduced. The clinical approach depends on the type of enuresis. A psychologic care of the patients with secondary enuresis and of children with neurotic personality is necessary; in the other cases it is advisable to set up a therapeutic alliance with the child against his symptom, and to deal with the depressive traits related to it. We have to think of enuresis not as a border between organic and psychological, but as a problem in which the two aspects are closely linked together without excluding each other. The author believes that psychotherapy with enuretic patients is frequently lasting.

Discontinuation of anti-epileptic therapy: a retrospective study of 86 children and adolescents.

In order to identify any predictive factors of relapse after the discontinuation of anticonvulsive therapy, a catamnestic study was made of 86 epileptic children and adolescents who had started or completed the withdrawal of AEDs. Their clinical records were examined retrospectively, and univariate analysis showed that the factors which correlated significantly with a higher relapse rate were the age at the time of reducing treatment, the presence of more than 30 generalised or partial tonic-clonic seizures, the presence of febrile seizures, the duration of the active phase of the disease, the duration of therapy, and the coexistence of more than one type of seizure. At multivariate analysis, only the presence of 30 generalised or partial tonic-clonic seizures and febrile seizures were significant. Given the small size of the diagnostic subgroups, no significant correlation could be demonstrated between epileptological diagnosis and the risk of recurrence.

[Abdominal pain and defecation disorders without a known organic origin: importance of the psychodiagnosis]. / Dolori addominali e turbe dell'alvo senza etiologia organica accertata. Importanza della valutazione psicodiagnostica.

The authors submitted some children examined in the Division of Pediatric Surgery of the Ospedali Galliera in Genoa to a psychodiagnostic evaluation. They presented abdominal pain and defecation disorders, whose organic etiology was not demonstrated. The psychodiagnostic evaluation, consisting in colloquia, tests, drawings and plays, was completed in 11 of the 28 patients referred. A profoundly disturbed and protagonist mother-child relationship and a frequent "border position" of the father was focused. The symptoms disappeared in 8 of the 11 patients during the diagnostic evaluation, that resulted, its own, therapeutic. 3 patients were treated with psychotherapy and a remarkable improvement at 6 months from the beginning of therapy was noticed. Seventeen patients were lost because they didn't come to the outpatient dates or because they were already followed by other specialists in their residential zones. The authors believe that a psychodiagnostic evaluation is important in children with abdominal pain and defecation disorders whose organic origin has not been demonstrated.

[Suicidal behavior among adolescents]. / Comportamenti suicidari negli adolescenti.

Some data from the literature on adolescent suicidal behaviour are reported: incidence, employed methods, warning signs, risk factors, some psychodynamic aspects. The purpose of this work is to contribute to the study on this matter by a research on 33 adolescents (12 males, 21 females: mean age 14 years, range 11.2-17 years) examined because of suicidal behaviour. The study method includes: anamnesis, psychodiagnostic inquiry, family and environmental investigation, psychiatric evaluation. Suicidal behaviour is characterized by low levels of determined self-elimination intent ("suicidal gestures") in 36% of cases (1 male, 11 females). Relapses are found in 35% of cases, with death in 1 case. The most frequently used methods is drug poisoning (65%). Most common place where suicidal behaviour takes place is at home (82%). Most show warning signs especially verbal threats. Some problem in the family situation (conflicts in the parental couple or between parents and children, psychopathologic disturbances in the parents) and frequent difficulties in school and social adjustment are evident. In 45% a depressed state was noted, in the other cases several psychopathologic disturbances have been found: hysteric neurosis, borderline personality, psychosis. In 30% of cases symptoms coexist with a self-injuring meanings (nervous anorexia, pseudo-epileptic seizures). Prevalent psychodynamic characteristics are: vulnerability in facing frustrating situations and research of support from inadequate parental figures: displacement from hetero-direct aggressive drives to an expiratory or revengeful self wounding behaviour. Some criteria for an emergency care and for a middle to long term treatment are mentioned, and the opportunity for collaboration between pediatricians and psychotherapists is suggested.

[Anorexia nervosa in adolescents. Clinical aspects of the diagnosis and a follow-up]. / Anoressia mentale in età evolutiva. Aspetti clinici alla diagnosi e ad un follow-up.

In a brief review of the literature, the diagnostic, prognostic and therapeutic criteria of anorexia nervosa in adolescence are considered. An interdisciplinary approach (child neuropsychiatrists, clinical psychologists, auxological pediatricians) was adopted in 52 cases with a diagnosis of anorexia nervosa (46 females, 6 males; mean age 14). The results of the analysis of somatic disturbances (weight loss, anomalous sexual maturation), psychological aspects (cognitive level, organization of the personality), environmental implications (familial, social and school adjustment; mother-child relationship; pedagogic modalities; social and economic factors) are reported. The data from a follow-up of 29 patients (26 females, 3 males; mean age 19) are reported, and the degree of recovery assessed as follows: 1) clinical recovery at somatic-adjustment level (79% complete, 17% with atypical characteristics); 2) achievement of a harmonic organization of the personality (48%). The paper concludes with some remarks on the treatment, prognosis and prospects for prevention of the condition.