Caracterización fenotípica psicomotora y psicolingüística en el síndrome de Wolf-Hirschhorn: un estudio de 18 casos / PSYCHOMOTOR AND PSYCHOLINGUISTIC PHENOTYPIC CHARACTERIZATION IN WOLF-HIRSCHHORN SYNDROME: A STUDY OF 18 CASES

Introducción. El síndrome de Wolf-Hirschhorn (SWH) es una enfermedad rara de origen genético causado por una deleción parcial en la región terminal del brazo corto del cromosoma 4. La finalidad de este estudio es explorar variables del fenotipo cognitivo y su relación con el desarrollo evolutivo motor, visuoespacial, visuomotriz y del lenguaje en niños/as con esta patología. Pacientes y método. La investigación se dirige a una muestra incidental de 18 pacientes con diagnóstico clínico en el SWH, entre 1 y 23 años de edad, procedentes de diferentes países de habla hispana. Variables e instrumentos. Se recogieron diferentes variables diagnósticas, clínicas y neuropsicológicas como el desarrollo somático (desarrollo físico, motor y sensorial) y desarrollo cognitivo (desarrollo visuoespacial, visuomotriz, lenguaje comprensivo y expresivo). Se utilizaron dos instrumentos de medida: Cuestionario ad hoc de evaluación del desarrollo motor, visuoespacial, visuomotriz y del lenguaje, y la versión española de la Escala Barthel. La recogida de datos fue realizada mediante la información proporcionada por los progenitores. Resultados. El principal hallazgo de este estudio es que los/as niños/as con baja talla actual, bajo peso actual, menor perímetro craneal actual y con estatus epiléptico presentan mayor incidencia de problemas en el desarrollo evolutivo, en comparación con aquellos/as que actualmente presentan mayor talla, más peso, mayor perímetro craneal y sin estatus epiléptico. Conclusiones. Se constata un doble fenotipo cognitivo específico acorde a la muestra estudiada que puede ayudar a crear un primer perfil neuroevolutivo del SWH en la praxis sanitaria, educativa y/o social. (AU)

Introduction. Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disorder caused by a partial deletion in the terminal region of the short arm of chromosome 4. The purpose of this study is to explore cognitive phenotype variables and their relationship with motor, visuospatial, visuomotor and language development in children with WHS. Patients and method. The research targets an incidental sample of 18 patients clinically diagnosed with WHS, aged between 1 and 23 years, from various Spanish-speaking countries. Variables and instruments. Different diagnostic, clinical and neuropsychological variables were collected, including somatic development (physical, motor and sensory) and cognitive development (visuospatial, visuomotor, receptive and expressive language). Two measurement instruments were utilized: an ad hoc questionnaire assessing motor, visuospatial, visuomotor and language development, and the Spanish version of the Barthel Scale. Data collection relied on information provided by the parents. Results. The main finding of this study indicates that children with lower current height, weight, and head circumference, as well as those experiencing status epilepticus, demonstrate a higher incidence of developmental problems compared to those with higher current measurements of those variables, and with no status epilepticus. Conclusions. A distinct double cognitive phenotype was observed within the studied sample, which may help to create an initial neurodevelopmental profile of WHS for clinical, educational, and social purposes. (AU)

[Hereditary spherocytosis in neonates. Review of our caseload]. / Esferocitosis hereditaria neonatal: revisión casuística.

AIM: Review of hereditary spherocytosis diagnosed in infants younger than two months and their follow up. PATIENTS AND METHODS: Retrospective study of 18 infants younger than two months diagnosed from 1973 to 1995. RESULTS: Diagnosis was established in the first week of life in 50% of the patients. Hereditary pattern was autosomic dominant in 94% of the cases. Anaemia was observed in all the patients and hyperbilirubinemia in only 44%, although the latter was the clinical presentation in patients diagnosed at younger age. Exchange transfusion was performed in 3 children (1 with the severe form and 2 with the typical form of the disease). During the first 6 months of age, 55% of infants presented hemolytic crises that required transfusion in 91% of them. Both periodicity of crises and transfusions decreased to 38 and 44% respectively after the first year. Splenectomy was performed in the 3 children with severe forms and in 6 with typical forms (mean age 8 years and 3 months). No cholecystectomy was required so far. CONCLUSIONS: The authors believe that neonatal spherocytosis does not implicate worse prognosis at follow up. Blood support is higher during the first year of life. Elective splenectomy depends on age and transfusional requirements.

[Long-term follow-up of childhood epilepsy treated with vigabatrin outside of clinical trials]. / Seguimiento a largo plazo de la epilepsia infantil tratada con vigabatrina, fuera de los ensayos clínicos.

INTRODUCTION: Experimental conditions are not mirrored by clinical practice. OBJECTIVE: To study the efficacy of vigabatrin in the usual conditions of everyday clinical practice. PATIENTS AND METHODS: Retrospective review of all epileptic patients treated with vigabatrin in a neuropediatric outpatient clinic. OUTCOME MEASURES: a) Persistent seizure frequency reduction > or = 50%, and total control of seizures. Potential predictors of response were studied by logistic regression. b) Duration of VGB therapy, studied by the Kaplan-Meier method and its associated log-rank test. RESULTS: 113 patients with: partial symptomatic epilepsy (38%), partial cryptogenic (25.6%), partial idiopathic (6%), West syndrome (14%), Lennox-Gastaut syndrome (6%), other syndromes (9.7%). Reduction of seizure frequency was attained by 60% of patients at 3 months, sustained during 12 months by 40%, and during 5 years by 14%. Total control of seizures was present in 33% of patients at 3 months, persisted 12 months in 18% and 5 years in 2%. Independent predictors of a poor outcome were generalized seizures (except infantile spasms) and cerebral palsy, among others. The probability of continuing vigabatrin (VGB) therapy was 78% at 6 months, 55% at 2 years and 32% at 5 years. Duration of therapy was modified by early therapeutic response and antecedent of status epilepticus, among others. Adverse events were recorded in 18.5%. Visual fields were not studied in these series. CONCLUSIONS: For the time being, VGB-treated patients belong to the difficult-to-treat group. Percentages of responders depend upon duration of follow-up.

[Head injuries in children: can clinical features identify patients with high or low risk for intracranial injury?]. / Traumatismo craneal en la infancia: permite la clínica seleccionar los pacientes en alto o bajo riesgo de presentar una lesión intracraneal?

OBJECTIVE: The objective of this study was to assess the clinical features that might reliably identify the presence of an intracranial injury. PATIENTS AND METHODS: A prospective study of 1,128 children with head injury over a one year period was carried out. Information regarding each patient was documented, including demographic data, physical examination findings, neurologic status, diagnostic studies and the patient's outcome. RESULTS: Of the 1.128 patients, traumatic intracranial abnormalities identified on CT of the head was found in 11 (1%). Four patients of this group (36%) required surgery. Two children subsequently died. Loss of consciousness, amnesia. Glasgow Coma Scale less than 15 and focal neurological deficits were significantly more common in the group with intacranial injury. The negative predictive values were high for all features. CONCLUSIONS: Patients with symptoms of head injury should undergo head CT because a small number will require surgery. After a minor head trauma, children who are neurologically normal and without symptoms may be discharged from the emergency department and sent home after careful physical examination alone.