Mariadonatella Cocuzza

Brief Report: Autistic Behaviors among Children with Fragile X or Rett Syndrome: Implications for the Classification of Pervasive Developmental Disorder.

Autism is a behavioral disorder characterized by impaired social interaction, impaired communication, and a restricted range of activities and interests that emerge during infancy or early childhood (American Psychiatric Association [APA], 1987,1994). Although most individuals with autism (75%) have mental retardation, manifestation of the behavioral criteria for autism described in the Diagnostic and Statistical Manual of Mental Disorders (DSM) vary in frequency, type, and severity across individuals with the diagnosis. Some individuals who do not meet the diagnostic criteria for autism exhibit behaviors that fulfill only a subset of these criteria. For example, fragile X syndrome has been associated with autism, yet reports on the prevalence of nonverbal communication deficits and stereotypic behavior in this population vary greatly. In contrast, among children with Rett syndrome the prevalence and specificity of autistic behaviors has been more consistently established. Although the etiology of autism is currently unknown, there is considerable evidence to suggest organic involvement. For instance, data from magnetic resonance imaging studies support cerebellar abnormalities in autism, particularly in the vermal regions,

Lower IQ is associated with decreased clinical response to atomoxetine in children and adolescents with attention-deficit hyperactivity disorder.

AbstractObjectives: Atomoxetine is commonly used to treat attention-deficit hyperactivity disorder (ADHD) in children with a broad range of cognitive abilities. We examined the association between level of cognitive functioning as determined by IQ and clinical response during treatment with atomoxetine. Methods: The records of all the children and adolescents treated with atomoxetine at a university clinic in Catania, Italy, over a 3-year period were examined. A total of 55 clinically referred children and adolescents (aged 5–15 years, 53 males) with ADHD were treated with atomoxetine (10–110mg/day; mean: 1.28 mg/kg/day) for a period ranging from 2 to 168 weeks (mean: 57.3±SD 39.4, median: 56). The IQ was assessed as part of the diagnostic evaluation prior to starting treatment. During treatment, clinical outcome was rated on the Clinical Global Impression-Improvement (CGI-I) and CGI-Severity (CGI-S) scales. Results: The IQ ranged from 43 to 117 (mean: 80.6 ± SD 18.6, median: 84). The IQ and final CGI-I scores were negatively correlated (r=−0.68; p<0.01). Children and adolescents with an IQ <85 were less likely to be responders (defined as a final CGI-I score of 1 or 2) than children and adolescents with an IQ ≥85 (20.71% vs 76.9%; p< 0.001). None of the patients discontinued atomoxetine due to adverse effects, while treatment was discontinued in 20 subjects due to a lack of efficacy or ambivalence of parents about pharmacological treatment. Conclusions: Atomoxetine appears to be less effective in children and adolescents with an IQ <85 than in children and adolescents in the average range of cognitive functioning. This difference is not accounted for by differences in the severity of ADHD symptoms, co-morbidity or reduced tolerability to the medication. These findings suggest that, in order to be fully informative, clinical trials of medications for ADHD should also include children and adolescents functioning in the borderline and cognitive disability range.

Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia

We report on monozygotic twins with neonatal onset of daily reflex seizures triggered by hot water. Video record during the hot water bathing showed clinical signs consistent with a reflex seizure. The numbers of episodes were markedly reduced when the mother began bathing the children with reduced temperature bath water. At the age of 20 months, the twins developed episodes of paroxysmal disturbances including alternating hemiplegia. These two patients are the youngest reported cases of reflex hot water seizures, and the only reported cases in which reflex hot water seizures subsequently manifested episodes of alternating hemiplegia.

Neurological complications in hospitalized patients with pertussis: a 15-year Sicilian experience

Three hundred forty patients were diagnosed with pertussis infection at the Pediatric Clinic of the University of Catania, Sicily during the period 1979–1994. None of these patients had been previously vaccinated. Fourteen developed neurological complications at some point in their course, which took the form of seizures (both febrile and afebrile) and, in some cases, encephalopathy. Serious permanent neurological sequelae were not observed in this series of patients though they had pertussis severe enough to require hospitalization.

Febrile and afebrile convulsions: a clinical follow-up

A joint study was performed on 204 children who suffered separate febrile (FS) and afebrile seizures (aFS) within a short space of time to evaluate the risk of subsequent convulsive crises. The data obtained revealed frequent recurrence of seizures and high risk of subsequent convulsive afebrile crises in these children.

Multicenter study of childhood headache

This multicenter study reports the results obtained between 1990 and 1991 by the Study Group for Childhood Headache of the Italian Neuropediatric Society. Standardized computerized case sheets were used in order to increase the number of young patients studied and obtain more homogeneous results. A clinical diagnosis of headache was made in 600 patients (314 female and 286 male) between 4 and 12 years of age, in accordance with the classification set down by the International Headache Society. Clinical symptoms and follow-up were more severe in children with migraine as opposed to headache. No sequence of associated neurological and neurovegetative symptoms was observed at onset of headache, and some (phono-photophobia, pallor, drowsiness, abdominal pains) were much more prevalent than others. Because of the patients age we studied only the treatment of acute attack and did not take account of chronic treatment. In childhood the clinical course of primary headache tends to improve spontaneously, and we believe that prevention of headache attacks should be carried out only in very rare individual cases.

An 11-Year Follow-up Study of Neonatal-Onset, Bath-Induced Alternating Hemiplegia of Childhood in Twins

The authors previously reported on the initial manifestations in a set of female twins, who presented soon after birth with bath-induced paroxysmal events each time they were immersed in a warm water bath. These episodes progressively ceased by the age of 36 months, replaced by paroxysmal episodes of alternating hemiplegia unrelated to water immersion. By age 4 years, the twins developed the classic features of alternating hemiplegia of childhood. Clinical outcomes at the age of 11 years are now reported. Standard and video-electroencephalograms showed a large, slow background activity followed by lower amplitude waves without focal abnormalities or other abnormal findings. This represents the first report on (a) alternating hemiplegia of childhood started with bath-induced paroxysmal episodes; (b) this condition in monozygotic twins; and (c) an 11-year follow-up study in which the twins continue to experience episodes of alternating hemiplegia in the setting of baseline cognitive impairment without epileptic episodes.