The Morfeo Study: A 1-year follow-up of complications of vegetative state in a dedicated facility.

OBJECTIVES: Vegetative State (VS) implies significant issues. The aim of the MORFEO study is to identify the most relevant complications in VS patients and to supply clinicians and policy-makers with data derived from the analysis of a cohort of patients treated in a dedicated long-term facility setting. METHODS: A cohort of 22 VS patients treated between 2003 and 2007 were enrolled and followed up for 1 year. The information recorded were: Disability Rating Scale (DRS), Levels of Cognitive Functioning (LCF), pressure sores, nutritional status, neurological complications, articular complications (passive range of motion-ROM), deep-vein thrombosis and infections. The Kolmogorov-Smirnov test was used to verify the normal distribution of the variables. The indicators of complications were analysed with the Friedman test (continuous variables) and with the Cochran Q test (dichotomous variables). RESULTS: DRS and LCF values showed no significant variation. The number of pressure sores decreased. The nutritional status remained satisfying. The ROM worsened in lower limb joints; a trend (p = ns) towards an improved range was observed in shoulders and elbows. Fifteen infections were recorded. CONCLUSIONS: The data that proved significant suggest a minimum set of quality-of-care indicators in VS patients: pressure sores follow-up, nutritional status, ROM and incidence of infections.

L-carnitine supplementation in childhood epilepsy: current perspectives.

In November 1996, a panel of pediatric neurologists met to update the consensus statement issued in 1989 by a panel of neurologists and metabolic experts on L-carnitine supplementation in childhood epilepsy. The panelists agreed that intravenous L-carnitine supplementation is clearly indicated for valproate (VPA)-induced hepatotoxicity, overdose, and other acute metabolic crises associated with carnitine deficiency. Oral supplementation is clearly indicated for the primary plasmalemmal carnitine transporter defect. The panelists concurred that oral L-carnitine supplementation is strongly suggested for the following groups as well: patients with certain secondary carnitine-deficiency syndromes, symptomatic VPA-associated hyperammonemia, multiple risk factors for VPA hepatotoxicity, or renal-associated syndromes; infants and young children taking VPA; patients with epilepsy using the ketogenic diet who have hypocarnitinemia; patients receiving dialysis; and premature infants who are receiving total parenteral nutrition. The panel recommended an oral L-carnitine dosage of 100 mg/kg/day, up to a maximum of 2 g/day. Intravenous supplementation for medical emergency situations usually exceeds this recommended dosage.

Comprehensive management of epilepsy in persons with mental retardation.

Epilepsy is a common occurrence in persons with mental retardation. The application of recent advances in epilepsy research to patients with mental retardation has shown that well-accepted principles of management are as relevant for multiply handicapped people as for those with epilepsy alone. Quality enhancement is emphasized as the overarching concept that determines the quality of care provided to patients with epilepsy and mental retardation. This article reviews the comprehensive management of epilepsy, discusses what is known at present, and indicates what is not known and needs further research.

Prevention as a form of support: implications for the new definition.

The new ideas about the etiology of mental retardation described in the 1992 AAMR definition (Luckasson et al., 1992) provide the opportunity to rethink ideas about prevention. The opportunity also exists to correct the conspicuous absence of prevention considerations from Step 3 (Profile and Intensities of Needed Supports) in the AAMR three-step process. In this paper the changing concepts of what mental retardation is, what causes it, and how it can be prevented were explored. Etiology and prevention were related to the emerging support paradigm to demonstrate how prevention activities can be developed as a form of individual support. A format was suggested to improve the designation of the etiology in Step 2 (Classification and Description) and to relate etiology to strategies for prevention and support in Step 3.

Carnitine deficiency in epilepsy: Risk factors and treatment.

Numerous studies have shown that plasma carnitine levels are significantly lower in patients taking valproate than in controls. Free carnitine deficiency is not uncommon in these patients and also occurs in newborns with seizures and in patients taking other anticonvulsant drugs. Carnitine deficiency in epilepsy results from a variety of etiologic factors including underlying metabolic diseases, nutritional inadequacy, and specific drug effects. The relationship between carnitine deficiency and valproate-induced hepatotoxicity is unclear. Carnitine treatment does not always prevent the emergence of serious hepatotoxicity, but it does alleviate valproate-induced hyperammonemia. These studies suggest that specific risk factors for carnitine deficiency can be identified. Preliminary data suggest that carnitine treatment may benefit high-risk, symptomatic patients and those with free carnitine deficiency. Carnitine treatment is not likely to benefit low-risk, asymptomatic patients and those with normal carnitine levels.

Early neurodevelopmental growth in children with vertically transmitted human immunodeficiency virus infection.

OBJECTIVE: To examine mental and motor development in children with vertically transmitted human immunodeficiency virus (HIV) infection in the first 30 months of life. DESIGN: Prospective longitudinal study comparing two groups: children with HIV infection and HIV-exposed but uninfected children. SETTING: Pediatric Immunodeficiency Clinic at Boston (Mass) City Hospital, Boston University Medical Center. STUDY PARTICIPANTS: Twenty-four children with vertically transmitted HIV infection and 27 children who were born to HIV-infected mothers and became HIV negative served as controls. Socioeconomic status, gestational age, and prenatal drug exposure were comparable in the two groups. MEASUREMENTS/RESULTS: Using the Bayley Scales of Infant Development, all children were assessed at least once between 4 and 16 months and again between 17 and 30 months of age. Individual mean mental and motor scores were calculated for the early and later age span. Motor development in the infected group was delayed in comparison to the seroreverter group in both age spans and remained stable in both groups over time. Mental development was comparable in the two groups at 4 to 17 months, but HIV infection was associated with delay in mental development at 17 to 30 months of age. CONCLUSION: Early and persistent delay in motor development and deceleration in mental development in late infancy distinguishes many children who are HIV infected from exposed but uninfected children, but there is significant variability in early neurodevelopmental outcome among children with HIV infection.

The changing conception of mental retardation: implications for the field.

The 1992 American Association on Mental Retardation's (AAMR) definition and classification of mental retardation is different from the previous classification system in that: (a) a single diagnostic code of mental retardation is used if the person meets the three criteria of age of onset (18 or under), significantly subaverage abilities in intellectual functioning, and related limitations in two or more adaptive skills areas; (b) the person's strengths and weaknesses are described in reference to four dimensions: intellectual functioning and adaptive skills; psychological and emotional well-being; health, physical well-being, and etiology; and life activity environments; and (c) a profile of needed supports is developed across the four dimensions. In this article we discussed six major implications of the 1992 System for the field of mental retardation.

Neuroaxonal dystrophy at birth with hypertonicity and basal ganglia mineralization.

A full-term male infant exhibited rigidity of all extremities with hyperreflexia beginning soon after birth and lasting until his death at age 6 months. Head circumference remained at the 25th to 50th percentile. Distinct sleep-wake cycles and responsiveness to visual, auditory, and tactile stimuli developed. Metabolic studies, skin biopsy, electroencephalography, and electromyography produced normal results. Head computed tomographic and magnetic resonance imaging scans revealed mineralization of the basal ganglia and thalamus. Muscle and nerve biopsy results were consistent with axonal dystrophy. Autopsy showed widespread neuronal loss, with reactive gliosis, marked in the globus pallidus and brainstem reticulate core; spheroids in globus pallidus, nucleus cuneatus, and upper cervical cord; and mineralized neurons in the inner division of globus pallidus and thalamus. Neonatal hypertonia, rapid progression, and mineralization of the basal ganglia are unusual features of neuroaxonal dystrophy exhibited in this case.

An ecology of prevention for the future.

The field of mental retardation is being changed by a paradigm shift in how mental retardation is conceptualized and in how services are provided. This new way of thinking is reflected in the 1992 AAMR definition of what mental retardation is (Luckasson et al., 1992). Prevention efforts must also reflect this new way of thinking, which focuses on the interaction between individuals and their environment. In this paper, the stage was set for adoption of a new vision of prevention that incorporates an ecological approach to understanding the causation of mental retardation. The articles in this symposium were reviewed and their relevance to this new vision discussed. A comprehensive, coordinated, and integrated prevention program is needed that includes new strategies addressing a variety of personal, social, and environmental risk factors and on the interactions among them.

The persistent vegetative state in children: report of the Child Neurology Society Ethics Committee.

Increasing concern about children in a persistent vegetative state (PVS) prompted a survey of members of the Child Neurology Society regarding aspects of the diagnosis and management of this disorder. Major findings of those responding to this survey (26% response rate) were as follows: (1) 93% believed that a diagnosis of PVS can be made in children, but only 16% believed that this applied to infants younger than 2 months and 70% in the 2-month to 2-year group; (2) a period of 3 to 6 months was believed to be the minimum observation period required before a diagnosis of PVS could be made; (3) 86% believed that the age of the patient would affect the duration of time needed to make the diagnosis of PVS; (4) 78% thought a diagnosis of PVS could be made in children with severe congenital brain malformations; (5) 75% believed that neurodiagnostic studies would be of value and supportive of the clinical diagnosis of PVS; (6) members' opinions as to the average life expectancy (in years) for the following age groups after the patients were considered vegetative were: newborn to 2 months, 4.1; 2 months to 2 years, 5.5; 2 to 7 years, 7.3; and more than 7 years, 7.4; (7) 20% believed that infants and children in a PVS experience pain and suffering; and (8) 75% "never" withhold fluid and nutrition from infants and children in a PVS and 28% "always" give medication for pain and suffering.(ABSTRACT TRUNCATED AT 250 WORDS)

Carnitine, valproate, and toxicity.

Carnitine is an important nutrient that is present in the diet (particularly in meat and dairy products) and is synthesized from dietary amino acids. It functions to assist long-chain fatty acid metabolism and to regulate the ratio of free coenzyme A to acylcoenzyme A in the mitochondrion. Carnitine deficiency occurs in primary inborn errors of metabolism, in nutritional deficiency, and in various other disorders including antiepileptic drug therapy. Valproate therapy is often associated with decreased carnitine levels and occasionally with true carnitine deficiency. Some experimental and clinical evidence links valproate-induced carnitine deficiency with hepatotoxicity, but this evidence is limited and inconclusive. Carnitine supplementation has been useful in some studies, but these data are also limited. Young children with neurologic disabilities taking multiple antiepileptic drugs may have the greatest risk for carnitine deficiency. Measurement of carnitine levels appears warranted in these patients and in patients with symptoms and signs of possible carnitine deficiency.

Withdrawal of barbiturate anticonvulsant drugs: prospective controlled study.

A barbiturate (phenobarbital or primidone) was withdrawn over a period of 3 months from 25 institutionalized residents, all of whom had had three seizures or less in the past 6 months and were maintained on a nonsedating drug (phenytoin, carbamazepine, or valproic acid). Results were compared with a matched comparison group maintained on both drugs. Subjects withdrawn from primidone, but not those withdrawn from phenobarbital, had increased seizure frequency, probably due to withdrawal. After 14 months, seizure-free subjects withdrawn from barbiturates were no more likely to have had seizures than were comparison subjects. Barbiturates appear to be unnecessary and may be withdrawn.

Continuous infantile spasms as a form of status epilepticus.

An infant with congenital cytomegalovirus infection first developed seizures at six weeks of age. At 3 1/2 months of age, he developed continuous infantile spasms that lasted for more than an hour. This episode of status epilepticus was terminated by intravenous lorazepam and paraldehyde, and seizures were subsequently controlled for seven months by adrenocorticotropic hormone (ACTH), valproic acid, and phenobarbital. This case demonstrates that continuous infantile spasms may occur as a unique form of status epilepticus in young infants.