Intellectual abilities in tuberous sclerosis complex: risk factors and correlates from the Tuberous Sclerosis 2000 Study.

BACKGROUND: Tuberous sclerosis complex (TSC) is associated with intellectual disability, but the risk pathways are poorly understood. METHOD: The Tuberous Sclerosis 2000 Study is a prospective longitudinal study of the natural history of TSC. One hundred and twenty-five UK children age 0-16 years with TSC and born between January 2001 and December 2006 were studied. Intelligence was assessed using standardized measures at ≥2 years of age. The age of onset of epilepsy, the type of seizure disorder, the frequency and duration of seizures, as well as the response to treatment was assessed at interview and by review of medical records. The severity of epilepsy in the early years was estimated using the E-Chess score. Genetic studies identified the mutations and the number of cortical tubers was determined from brain scans. RESULTS: TSC2 mutations were associated with significantly higher cortical tuber count than TSC1 mutations. The extent of brain involvement, as indexed by cortical tuber count, was associated with an earlier age of onset and severity of epilepsy. In turn, the severity of epilepsy was strongly associated with the degree of intellectual impairment. Structural equation modelling supported a causal pathway from genetic abnormality to cortical tuber count to epilepsy severity to intellectual outcome. Infantile spasms and status epilepticus were important contributors to seizure severity. CONCLUSIONS: The findings support the proposition that severe, early onset epilepsy may impair intellectual development in TSC and highlight the potential importance of early, prompt and effective treatment or prevention of epilepsy in tuberous sclerosis.

[Severe chloralose intoxication in a toddler]. / Intoxication sévère par le chloralose chez un nourrisson.

UNLABELLED: We report a case of an accidental intoxication in a 20-month-old boy resulting from the ingestion of a rodenticide containing alpha-chloralose. CASE REPORT: Three hours after initial admission to the pediatric emergency department for wheezing bronchitis, this patient was readmitted with a clinical presentation of respiratory insufficiency, a Glasgow coma score of 9 alternating with agitation, areflexia and unilateral mydriasis. Parental interview revealed he had episodes of shaking in the afternoon. Chest x-ray showed thoracic distension. Blood investigations, electrocardiogram, cardiac echography, brain CT scan and CSF were normal. Electroencephalography registered slow delta waves 2-3 cycles/min and an aspect of degraded waves and spikes. The patient was transferred to the intensive care unit where he fully recovered within 48 hours. A second parental interview and clinical presentation confirmed an intoxication with a rodenticide containing alpha-chloralose. The late clinical orientation did not allow us to perform a urinanalysis. DISCUSSION: Clinical association of coma, spontaneous or triggered myoclonias and bronchial hypersecretion are indicative of chloralose intoxication. Presence of specific abnormalities on electroencephalogram and a positive Fujiwara-Ross reaction in an urine sample are additional elements for the diagnosis. The prognosis is usually good after early management which combines gastric lavage, activated charcoal, sedation with benzodiazepines, tracheal intubation and artificial ventilation if required. Severe clinical cases described in voluntary intoxications in adults and teenagers occur very rarely in toddlers.

Pathological demand avoidance syndrome: a necessary distinction within the pervasive developmental disorders.

A proposal is made to recognise pathological demand avoidance syndrome (PDA) as a separate entity within the pervasive developmental disorders, instead of being classed under "pervasive developmental disorder not otherwise specified" (PDDnos, DSM-IV). Discriminant functions analysis shows PDA to be significantly different on many counts from classic autism and Asperger's syndrome, both separately and together, including an equal sex ratio (150 cases). Demand avoidance using social manipulation is seen in all children, which strongly contrasts with the features of autistic spectrum disorders. A criterial structure is described, supported by statistical data from a random sample of 50 children diagnosed with PDA, together with a follow up sample of 18 young adults.

Phenothiazine-induced acute colitis: a positive rechallenge case report.

A case of phenothiazine-induced recrotizing colitis in a 41-year-old man is presented. A positive rechallenge was observed after introduction of another phenothiazine. The mechanism of this adverse drug reaction is discussed.

The burden of care: the impact of HIV-associated dementia on caregivers.

It has been suggested that up to 15% of patients with AIDS may develop HIV-associated dementia. The syndrome may be either abrupt or insidious and is characterized by poor prognosis. Increasing cognitive impairment will necessitate the patient receiving a substantial amount of care and support in the community in addition to medical treatment and periods of hospitalization. The impact of caregiver burden is reasonably well documented in Alzheimer's disease, but there is a dearth of literature relating to caregiving and HIV-associated dementia. The current investigation is an observational study based on a small group of individuals which evaluates the experiences of these particular individuals as they care for their partner, friend, or son with HIV-associated dementia. The caregivers experience the stresses described in the non-HIV dementia literature; however, the nature of HIV disease means that there are issues involved in caring for this patient group that distinguish it from other types of dementia care; these include difficulties relating to specific HIV medical problems and problems with service shortfalls. The caregiver is more likely to be a parent or partner than a child of the patient due to the early age onset seen in this disease compared with Alzheimer's disease. Caregivers express their need for information about dealing with the everyday physical, behavioral, and emotional challenges and about services and benefits available. The interviewees expressed concerns over a perceived lack of communication and information from professionals involved in the patient's care and in the provision of services. The study offers an insight into the relevant issues affecting such caregivers and suggests areas of unmet needs that might be addressed in future service provisions.