Indicadores clínicos precoces de los trastornos generalizados del desarrollo / Early clinical indicators of pervasive development disorders

Introducción: Los trastornos generalizados del desarrollo (TGD) son procesos caracterizados por presentar déficits en múltiples áreas de la conducta. El resultado son alteraciones en la interacción social, la comunicación verbal y no verbal, y la presencia de intereses restrictivos y repetitivos. La importancia de su diagnóstico precoz radica en la posibilidad de la intervención temprana y su efecto en el pronóstico del paciente. Como el diagnóstico de TGD se ha incrementado en los últimos años, se plantea la detección de situaciones clínicas de fácil identificación en el primer año de vida que permitan mejorar el diagnóstico y facilitar la intervención temprana. Pacientes e intervenciones: Se estudia a 37 pacientes con TGD y 69 controles sanos de forma ambispectiva, a los que se les practica somatometría básica, exploraciones neurológicas y recogida de datos de variables del cuestionario modificado para la detección de riesgo de autismo(MCHAT). Resultados: La proporción de varones (OR: 3,87; IC del 95%, 1,23-12,96), el retraso en los primeros bisílabos (TGD = 20,1±23 meses vs control = 10,8±10,3 meses; p < 0,01), la ausencia de contacto visual (OR: 0,05; IC del 95%, 0,01-0,29), la falta de respuesta a la llamada de atención (OR: 0,12; IC del 95%, 0,02-0,67) y el aumento de «berrinches» (OR: 6,37; IC del 95%,2,39-17,34) fueron significativamente superiores en el grupo con TGD. Conclusiones: Las diferencias que hemos detectado entre ambos grupos no pueden constituir un sistema diagnóstico de certeza en este periodo; sin embargo, creemos que deben ser considerados signos de alarma en el contexto de retrasos madurativos de lactantes y preescolares, a la vez que sugieren la existencia de un fenotipo precoz de TGD(AU)

Introduction: Pervasive development disorders (PDD) conditions characterised by deficits in many areas of behaviour, such as delay in social interactions, abnormalities in verbal and non-verbal communication, and the presence of the restrictive and repetitive interests. The relevance of early diagnosis is based on the fact that early intervention could have a beneficial effect on the long term outcome. Due to the increase of the PDD diagnosis in the recent years, we aimed to study easily detectable clinical traits during the first year of life, leading to an improvement in the diagnosis. Patients and interventions: A prospective and retrospective study was conducted on 37 PDD patients and 69 healthy controls. Somatometric and neurological examinations were performed and a questionnaire with several variables from the Modified Checklist for Autism in Toddlers (M-CHAT) completed by the parents. Results: The male to female ratio (OR: 3.87; 95% CI: 1.23-12.96), delay in the first disyllabic words (PDD = 20.1±23 months vs Control = 10.8±10.3 months; P < 0.01), absence of visual contact (OR: 0.05; 95% CI: 0.01-0.29), the lack of response to attention call (OR: 0.12; 95%CI: 0.02-0.67), and the increase in tantrums (OR: 6.37; 95% CI: 2.39-17.34), were significantly higher in the PDD group. Conclusions: The differences detected between groups can not been considered as a diagnostic tool of certainty in this time period, however, we believe that they should be considered in the context of maturational delay, as alarm signs in infants and toddlers, as well as suggesting the existence of an early pervasive development phenotype(AU)

[Early clinical indicators of pervasive development disorders]. / Indicadores clínicos precoces de los trastornos generalizados del desarrollo.

INTRODUCTION: Pervasive development disorders (PDD) conditions characterised by deficits in many areas of behaviour, such as delay in social interactions, abnormalities in verbal and non-verbal communication, and the presence of the restrictive and repetitive interests. The relevance of early diagnosis is based on the fact that early intervention could have a beneficial effect on the long term outcome. Due to the increase of the PDD diagnosis in the recent years, we aimed to study easily detectable clinical traits during the first year of life, leading to an improvement in the diagnosis. PATIENTS AND INTERVENTIONS: A prospective and retrospective study was conducted on 37 PDD patients and 69 healthy controls. Somatometric and neurological examinations were performed and a questionnaire with several variables from the Modified Checklist for Autism in Toddlers (M-CHAT) completed by the parents. RESULTS: The male to female ratio (OR: 3.87; 95% CI: 1.23-12.96), delay in the first disyllabic words (PDD=20.1±23 months vs Control=10.8±10.3 months; P<.01), absence of visual contact (OR: 0.05; 95% CI: 0.01-0.29), the lack of response to attention call (OR: 0.12; 95% CI: 0.02-0.67), and the increase in tantrums (OR: 6.37; 95% CI: 2.39-17.34), were significantly higher in the PDD group. CONCLUSIONS: The differences detected between groups can not been considered as a diagnostic tool of certainty in this time period, however, we believe that they should be considered in the context of maturational delay, as alarm signs in infants and toddlers, as well as suggesting the existence of an early pervasive development phenotype.

Utilización del ácido linoleico conjugado (CLA) en el niño y adolescente obesos / Use of conjugated linoleico acid (CLA) in the obese child and adolescent

El sobrepeso y la obesidad pediátrica tienen un ritmo creciente en los últimos 30 años y constituyen un firme antecedente de la obesidad del adulto. El ácido linoleico conjugado y concretamente el isómero t10-c12, 18:2 tiene una acción antiadipogénica demostrada en el adulto. En el presente estudio prospectivo, observacional y comparativo con la situación básica, se analiza la disminución del índice de masa corporal relativo (IMCr) en una población de niños obesos a la que se ha administrado CLA. Se han incluido 71 pacientes (38 género femenino) y de los cuales 42 han terminado el estudio a los 8 meses. Todos ellos tuvieron un peso normal al nacimiento, y la edad de incorporación al estudio ha sido a los 11,3±2,7 años. Todos ellos siguieron los procedimiento asistenciales de la Unidad de Nutrición, Crecimiento y Metabolismo y recibieron 3 g diarios de la mezcla de CLA en un soporte lácteo. Todos ellos tuvieron un IMCr (kg/m2 : kg p 50/m2 p50x 100) ≥121%. Resultados. El IMCr inicial fue de 154,8 ± 22,4% y tras 8 meses de 144,4 ± 21,7& (p=0,003). La evolución de la circunferencia abdominal fue respectivamente de 92,1 ± 10,0 cm a 87,3 ± 16,4 cm (ns). Las determinaciones plasmáticas de glucosa, insulina (e índice de HOMA) tuvieron valores iníciales y finales de 93,1 ± 6,6 mg/dl y 87,4 ± 7,1 mg/dl y 13,3 ± 7,3 µU/ml y 14,2 ± 8,8 µU/ml, no siendo significativas estas diferencias. En conclusión y a tenor de los resultados obtenidos en este estudio, en el que por su duración se ha superado el período inicial de buenos resultados, el CLA ha contribuido al efecto reductor del índice de masa corporal y en menor grado, a la grasa visceral estimada indirectamente por la circunferencia abdominal. No se ha detectado ningún efecto clínico o bioquímico colateral (AU)

Paediatric overweight and obesity has been increasing over the last 30 years and both constitute a firm precedent for adult obesity. CLA and particularly the t10-c12 18:2 isomer have an anti-adipogenic action shown in adults. In paediatric and adolescent obesity, the present, prospective, observational and comparing with the initial situation study, a relative body mass index (rBMI) reduction has been analyzed after CLA administration. 71 patients have been included, (38 females), of which only 42 concluded the study at 8 months from start. All of them had normal weight at birth and enrolment age was 11,3 ± 2.7 years. This implied the standard care of the Nutrition, Growth and Metabolism Unit, they were given daily 3 grammes of CLA in a dairy base. Their rBMI (kg/m2 : kg p 50/m2 p50x 100) was equal or greater than 121%. Results. Initial rBMI was 154,8 ± 22,4% and after eight months was 144,4 ± 21,7& (p=0,003). Abdominal circumference was respectively from 92,1 ± 10,0 cm a 87,3 ± 16,4 cm (ns). Plasma values of glucose, insulin and subsequent HOMA index had initial and final values of 93,1 ± 6,6 mg/dl y 87,4 ± 7,1 mg/dl y 13,3 ± 7,3 µU/ml y 14,2 ± 8,8 µU/ml, not significant differences. In conclusion and according to these results after a duration of 8 months which has overtaken the normal “honeymoon” period CLA has contributed to a reduction in rBMI and to a lesser extent to the perivisceral fat, roughly estimated by abdominal circumference. No clinical side effects were detected (AU)

Utilización del ácido linoleico conjugado (CLA) en el niño y adolescente obesos / Use of conjugated Linoleic acid (CLA) in obese children and adolescents

El sobrepeso y la obesidad pediátrica tienen un ritmo creciente en los últimos 30 años y constituyen un firme antecedente de la obesidad del adulto. El ácido linoleico conjugado y concretamente el isómero t10-c12, 18:2 tiene una acción antiadipogénica demostrada en el adulto. En El presente estudio prospectivo, observacional y comparativo con la situación básica, se analiza la disminución del índice de masa corporal relativo (IMCr) es una población de niños obesos a la que se ha administrado CLA. Se han incluido 71 pacientes (38, género femenino) y de los cuales 42 han terminado el estudio a los 8 meses. Todos ellos tuvieron un peso normal al nacimiento y la edad de incorporación al estudio ha sido a los 11,3 ± 2,7 años. Todos ellos siguieron los procedimientos asistenciales de la Unidad de Nutrición, Crecimiento y Metabolismo y recibieron 3g diarios de la mezcla de CLA en un soporte lácteo. Todos ellos tuvieron un IMCr (Kg/m2;: kg p50/m2p50 x 100) ≥ 121%. Resultados. El IMCr inicial fue de 154,8 ± 22,4% y tras 8 meses de144,4 ± 21,7% (p=0,003). La evolución de la circunferencia abdominal fue respectivamente de 92,1 ± 10,0 cm a 87,3 ± 16,4 cm (ns). Las determinaciones plasmáticas de glucosa, insulina (e índice de HOMA) tuvieron valores iníciales y finales de 93,1 ± 6,6 mg/dl y 87,4 ± 7,1 mg/dl y 13,3 ± 7,3 µU/ml y 14,2 ± 8,8 µU/ml, no siendo significativas estas diferencias. En conclusión y a tenor de los resultados obtenidos en este estudio, en el que por su duración se ha superado el período inicial de buenos resultados, el CLA ha contribuido al efecto reductor del índice de masa corporal y en menor grado a la visceral estimada indirectamente por la circunferencia abdominal. No se ha detectado ningún efecto clínico o bioquímico colateral (AU)

Paediatric overweight and obesity has been increasing over the last 30 years and both constitute a firm precedent for adult obesity. CLA and particularly the t10-c12 18:2 isomer have an anti-adipogenic action shown in adults. In paediatric and adolescent obesity, the present, prospective, observational and comparing with the initial situation study, a relative body mass index (rBMI) reduction has been analyzed after CLA administration. 71 patients have been included, (38 females), or which only 42 concluded the study at 8 months from start. All of them had normal weight at birth and enrolment age was 11.3 ± 2.7 years. This implied the standard care of the Nutrition, Growth and Metabolism Unit, they were given daily 3 grammes of CLA in a dairy base. Their rBMI (kg/m2: kgp 50/m2 p50 x 100) was equal or greater than 121%. Results: Initial rBMI was 154.8 ± 22,4% and after eight months was 144.4 ± 21.7 % (p=0.003). Abdominal circumference was respectively form 92.1 ± 10 cm to 87.3 ± 16.4 cm (ns). Plasma values of glucose, insulin and subsequent HOMA index had initial and final values of 93.1 ± 6.6 mg/dl and 87.4 ± 7.1 mg/dl and for insulin 13.3 ± 7.3 uU/ml and 14.2 ± 8.8 uU/ml, not significant differences. In conclusion and according to these results after a duration of 8 months which has overtaken the normal “honeymoon” period, CLA has contributed to a reduction in rBMI and to a lesser extent to the perivisceral fat, roughly estimated by abdominal circumference. No clinical side effects were detected (AU)

Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families.

Mutations in the DYT1 gene cause idiopathic torsion dystonia (ITD) transmitted in families as an autosomal dominant trait with incomplete penetrance. The most common mutation, 946delGAG, has been observed in populations with different ethnic and geographic origins. We have investigated 40 individuals from 22 unrelated families with ITD originating from the Land of Valencia, Spain, for the presence of this mutation and we found 5 patients and 6 unaffected subjects from 4 families who were carriers of the mutation. This finding indicates that 18% of families may be diagnosed as DYT1 and that penetrance is reduced. We detected two different geographic and linguistic origins of the Valencian families. However, by haplotype analysis using D9S1260, D9S1261, D9S63 and D9S1262 as flanking markers, we demonstrated that all affected and unaffected carriers shared a common chromosome confirming identical origin of the mutation in the four families. We postulate a unique origin for the 946delGAG mutation in the Land of Valencia and, based on linguistic criterion, we propose that the mutation might have occurred at the beginning of the second millennium. Genetic analysis of another family from Castilla-La Mancha showed a different haplotype segregating with the disease, suggesting that at least two distinct mutational events for the 946delGAG mutation have occurred in Spain.

Síndrome e de Zellweger: descripción de un caso de supervivencia prolongada / Zellweger syndrome: report of a case of long-term suviral

El síndrome de Zellweger es una rara enfermedad metabólica producida por una hipofunción marcada de los peroxisomas a causa de la disminución de su número. Se afecta el metabolismo lipídico, sobre todo el perfil de ácidos grasos de cadena muy larga (AGCML) en sangre y en botón celular. Clínicamente debuta en el periodo neonatal con convulsiones, hipotonía generalizada, alteraciones oculares, hepáticas y renales. Las complicaciones son muy incapacitantes y provocan la muerte en los primeros meses. Presentamos un caso típico en el que se ensayó un aporte exógeno de AGCML durante 6 meses sin que se observara ninguna mejoría clínica ni cambios del perfil de AGCML. Nuestra paciente falleció a los 2 años y 8 meses por sobreinfección respiratoria (AU)

[Neonatal reflexes variability in the normal full term neonate during the neurological exam]. / Variabilidad de los reflejos neonatales en la exploración neurológica del recién nacido a término sano.

It has been stated that findings in neonatal neurological examinations can play a role as a pointer to adverse developmental outcome. The description of the examinations, and their presence or absence differed among authors without clear reference to their physiological variability ranges. We approached the study of some neonatal behaviours and reflexes in 143 examinations made on 113 healthy newborn babies from the maternity wards by looking at the influence that perinatal environmental factors which are considered normal, can play in these examinations. The results showed that the flexion answer of the Babinski reflex increased significantly between the first and third day of life (c2= 4.4478; p= 0.03495) in the same way there was an increase in the stepping reflex (c2= 3.999; p= 0.04552) in the righting reflex (c2= 4.9342; p= 0.02633) and in the supporting reaction (c2= 11.7874; p= 0.0006). This was significantly reduced in the caesarean section deliveries (c2= 7.1209; p= 0.0076). Head reaction was only detectable during the Brazelton behavioural states 1 to 3 (c2= 3.8911; p= 0.04854) and the same thing happened with the stepping reflex (c2= 4.9370; p= 0.02629). We discuss the utility of neonatal reflexes scoring scales in predicting the neurodevelopmental outcome of the newborn baby.

Variabilidad de los reflejos neonatales en la exploración neurológica del recién nacido a término sano / Neonatal reflexes variability in the normal full term neonate during the neurological exam

Se admite que las alteraciones en la exploración neurológica neonatal pueden servir como indicadores de trastornos del neurodesarrollo a largo plazo. La descripción de la exploración de estos reflejos y su positividad o negatividad difiere entre autores, sin que existan definiciones de sus intervalos de variabilidad fisiológica. Se plantea el estudio de los reflejos y comportamientos neonatales de 143 exámenes realizados sobre 113 recién nacidos (RN) sanos de la maternidad y se observa la influencia que factores ambientales perinatales, considerados normales, podrían tener en estas exploraciones. Los resultados mostraron que la respuesta en flexión del reflejo de Babinski aumentaba significativamente entre el primer día de vida y el tercero (X2= 4,4478; p= 0,03495) al igual que se producía un aumento en la presencia del reflejo del escalón ( X2= 3,999; p= 0,04552), en el reflejo de enderezamiento ( X2= 4,9342; p= 0,02633) y reacción de soporte ( X2= 11,7874; p= 0,0006). Esta última se veía significativamente reducida en los partos por cesárea ( X2= 7,1209; p= 0,0076). La detección de la reacción cefálica sólo fue posible durante los estados de comportamiento 1-3 de Brazelton ( X2= 3,8911; p= 0,04854) al igual que ocurrió con el reflejo del escalón ( X2= 4,9370; p= 0,02629). Se discute el valor que la aplicación de escalas de puntuación de reflejos neonatales tiene en pronosticar el neurodesarrollo de los recién nacidos a término (AU)

Fatty acid composition of mature breast milk according to the mothers diet during pregnancy.

Mothers taking 200 g of fish per week, showed a greater content in mature breast milk of n-3 fatty acids, particularly DHA. AA was not decreased. Vitamin D content was low despite mothers were living in a sunny and temperate area. The content of 25 hydroxyvitamin D is increased in the group on fish intake, probably pointing out its marine source.

[Neurological evolution of asphyctic full-term newborns with severe umbilical acidosis (pHUA <7.00)]. / Evolución neurológica de los recién nacidos a término asfícticos con acidosis umbilical grave (pHAU < or = 7,00).

INTRODUCTION AND OBJECTIVE: Umbilical arterial blood pH (pHUA) has become increasingly recognized as the most reliable indication of foetal oxygenation and acid-base condition at birth. In term infants pHUA is a poor predictor of newborn complications associated with perinatal asphyxia (PA), unless the pHUA is less than 7.00. The objective of this article is to analyse the neurologic evolution of asphyctic full-term newborns with severe umbilical acidosis (pHUA < or = 7.00). PATIENTS AND METHODS: One hundred and eighty consecutive asphyxiated term infants were studied during 64 months, and classified in two cohorts: G1 (pHUA < or = 7.00, n = 18) and G2 (pHUA > 7.00, n = 162). Variables prospectively obtained on standard protocol forms from the medical records were derived from a detailed review of the obstetric record, the delivery room management, the detailed neonatal clinical history and the postneonatal follow-up. The perinatal variables were graded as prenatal (gestational and obstetric), neonatal (resuscitation, general data of the newborn, and organic manifestations of asphyxia) and postneonatal (neurologic sequelae with at lest 24 months of follow-up). PA was graded as severe and non-severe, hypoxic-ischemic encephalopathy was based on Levene's criteria, and neurologic sequelae were based on Finer and Amiel-Tisson's criteria. RESULTS: An umbilical artery pH value < or = 7.00 occurred in 0.3% of the total live full-term newborns. In G1 the mean pHUA value was 6.93 +/- 0.06 (range 6.80-7.00) and in G2 the mean pHUA value was 7.17 +/- 0.09 (range 7.01-7.46). The incidence of severe PA was significantly increased in G1 (RR = 4.74, CI 95% = 2.62-8.55, p < 0.001), with more postasphyctic neurologic (RR = 3.72, CI 95% = 2.34-5.92, p < 0.001) and extraneurologic (RR = 3.13, CI 95% = 1.65-5.94, p < 0.01) involvement. But we do not found differences in the incidence of neurologic sequelae between both cohorts. CONCLUSIONS: Term asphyctic newborns with severe umbilical acidosis have worse evolution at short term (more clinical involvement during neonatal period), but not worse evolution at long term (neurologic sequelae). The poor correlation between umbilical acidosis and neurologic prognosis persist when pHUA cut-off is < or = 7.00.

Evolución neurológica de los recién nacidos a término asfícticos con acidosis umbilical grave (pHAU = 7,00) / Neurologic evolution of asphyctic full-term newborns with severe umbilical acidosis (pHUA = 7.00)

Introducción y objetivo. El pH de arteria umbilical (pHAU) es un buen indicador del estado ácido-básico y de la oxigenación fetal al nacer. En recién nacidos a término, el pHAU es un pobre indicador pronóstico de complicaciones neonatales asociadas con asfixia perinatal (AP), a menos que se considere un valor de pHAU inferior a 7,00. El objetivo del estudio es analizar la evolución neurológica de los recién nacidos a término con acidosis umbilical grave (pHAU = 7,00). Pacientes y métodos. Se estudiaron los 180 recién nacidos a término con AP nacidos consecutivamente en nuestro hospital durante 64 meses, que se clasificaron en dos cohortes: G1 (pHAU = 7,00, n= 18) y G2 (pHAU >7,00, n= 162). Las variables de estudio se obtuvieron a través de un protocolo estandarizado a partir de la historia clínica materna, la hoja de reanimación neonatal, la historia clínica neonatal y el seguimiento clínico en consultas externas. Las variables perinatales estudiadas se clasificaron en prenatales (gestacionales y obstétricas), neonatales (reanimación, datos generales del recién nacido y manifestaciones orgánicas de la asfixia) y posneonatales (secuelas neurológicas detectadas durante un seguimiento mínimo de 24 meses). La AP se subdividió en dos grados, según su intensidad (grave y no grave), la encefalopatía hipóxico-isquémica se clasificó a partir de los criterios de Levene y las secuelas neurológicas, según los criterios de Finer y Amiel-Tisson. Resultados. Un valor de pHAU = 7,00 acaeció en el 0,3 por ciento del total de recién nacidos a término. En el G1 el valor medio del pHAU fue 6,93ñ0,06 (intervalo 6,80-7,00) y en el G2 el valor medio del pHAU fue 7,17ñ0,09 (intervalo 7,01-7,46). La incidencia de AP grave se detectó con mayor frecuencia en el G1 (RR= 4,74, IC al 95 por ciento= 2,62-8,55, p< 0,001), con más manifestaciones clínicas postasfícticas, tanto neurológicas (RR= 3,72, IC al 95 por ciento= 2,34-5,92, p< 0,001) como extraneurológicas (RR= 3,13, IC al 95 por ciento= 1,65-5,94, p< 0,01). Pero no encontramos diferencias en la incidencia de secuelas neurológicas entre ambas cohortes. Conclusiones. Los recién nacidos a término con acidosis umbilical grave tienen peor evolución a corto plazo (mayor frecuencia de manifestaciones clínicas durante el período neonatal), pero no a medio plazo (secuelas neurológicas). La pobre correlación entre acidosis umbilical y pronóstico neurológico persiste a pesar de considerar el punto de corte en la acidosis grave (pHAU = 7,00) (AU)

Parasagittal cerebral injury: magnetic resonance findings.

Parasagittal cerebral injury is a specific pathologic lesion that can be found in full-term newborn babies suffering from hypoxic-ischemic encephalopathy. It is defined by the presence of cortical and subcortical white-matter necrosis involving the parasagittal and superomedial areas of the cerebral convexities. We report on two patients who showed parasagittal cerebral injury on magnetic resonance imaging. In both cases antecedents of hypoxic-ischemic encephalopathy were noted. In one of the patients basal ganglia involvement was also detected by cranial magnetic resonance imaging. In the follow-up studies the presence of upper-limb pyramidal signs and dyspraxia were two of the more pronounced symptoms. We will discuss the usefulness of neuroimaging, especially magnetic resonance imaging with coronal views, in the diagnosis of the parasagittal cerebral injury.

[Increase in the incidence of occipital plagiocephaly]. / Incremento en la incidencia de plagiocefalia occipital.

INTRODUCTION: The diagnosis and treatment of posterior plagiocephaly is one of the most controversial aspects of craniofacial surgery. PATIENTS AND METHODS: The purpose of this study is to describe a recent increase in the incidence of occipital plagiocephaly without synostosis in our hospital during the last 6 months. The shift in the referral patterns is roughly contemporaneous with the American Academy of Pediatrics recommendations regarding infant sleep position. The temporal coincidence of this increase with the recommendation to avoid the prone sleeping position, to reduce the risk of sudden infant death syndrome, suggests a possible causal relationship. If the association is causal, education regarding the need of head position rotation coupled with that for sudden infant death syndrome should obviate positional occipital plagiocephaly. CONCLUSIONS: The feature of true lambdoid synostosis versus those of deformational plagiocephaly secondary to positional molding are inadequately described in the literature and poorly understood; the differential diagnosis is important in relation to a conservative diagnostical and therapeutical intervention in patients with positional molding.

A patient with autistic disorder and a 20/22 chromosomal translocation.

The case history of a 3-year-old boy without speech and who met 10 criteria of an autistic condition (DSM-IV) (American Psychiatric Association 1994) is reported. Psychometric evaluation, excluding the verbal scale, resulted in an IQ score of 56. The cytogenetic study showed a 20/22 translocation and an interstitial deletion within the region 22q11: 45,XY, -22, +der(20), t(20;22) (q13.3;q11.2), which was confirmed by fluorescence in situ hybridisation (FISH). Although deletions at 22q11 are responsible for the DiGeorge syndrome; clinical, metabolic, and neurological image studies of the patient were inconsistent with this syndrome. In the clinical examination the patient presented with a mildly dysmorphic facies, pectus excavatum, and a short thumb. A 99mTc HMPAO brain perfusion SPECT showed a hypoperfusion of the left temporoparietal cortex. As there have been no previous reports of autistic patients with abnormalities involving both chromosomes 20 and 22, these findings merit some discussion either as a possible cause of autism or as accompanying factors.

Influence of different levels of neonatal mild/moderate hypoxia-ischemia in learning abilities of rats at the age of one month.

We studied the effects of mild/moderate hypoxia-ischemia in 90 newborn Wistar rats divided into 3 groups. Two of the three groups were submitted to two different levels of hypoxia (FiO2 = 0.05, group F5 and FiO2 = 0.1, group F10) and the third to normoxia (FiO2 = 0.21, group F21) in a thermoneutral and controlled environment. We examined their influence in a maze test 1 month later after two training trials, a 48-hour fasting period and handling stress just before starting the trial. The learning ability in animals exposed to FiO2 = 0.1 was lower (significantly higher number of squares crossed F10 = 37.57 +/- 20.8) than the others (F21 = 26.22 +/- 19.25; F5 = 26.56 +/- 14.97; p = 0.0481), while group F5 had the best learning improvement measured by the reduction in wrongly crossed squares (F5 day 25 = 25.08 +/- 19.9; day 26 = 13.04 +/- 13.91; day 30 = 10.08 +/- 9.66; p = 0.0427). These differences in group F5 as well as the maze solution profile (defined by analysis of 15 variables considered) was significantly closer to the control group F21 than the less hypoxied group F10. We discuss whether these paradoxical results in learning abilities reflect the influence of the hypoxic levels to which the newborn animals were submitted, or to the effects of uncontrolled variables in this study.

[Early infantile epileptic encephalopathy and glycine encephalopathy]. / Encefalopatía epiléptica infantil precoz y encefalopatía glicinémica.

INTRODUCTION: Early infantile epileptic encephalopathy (EIEE) with suppression burst activity in EEG (Ohtahara syndrome) is a rare type of epileptic encephalopathy in infancy and represents the earliest type of age-related symptomatic generalized epilepsy. The main etiologic factors associated to EIEE are cerebral dysgenesia and metabolopathies, principally nonketotic hyperglycinemia. CLINICAL CASE: We report a neonate with EIEE secondary to glycine encephalopathy, diagnosed by increased of LCR/plasma glycine index.

[Unit of compliance with chronic prescriptions: a study of frequency of attendance]. / Unidad de cumplimentación de prescripciones crónicas: estudio de frecuentación.

OBJECTIVE: To analyse frequency of attendance at a Unit of Compliance with Chronic Prescriptions (UCCP) within a Health Centre (HC). DESIGN: A prospective study with a six-year follow-up period 1986-1992. SETTING: The study was carried out at the Florida HC, Alicante, which covers an urban population of about 20,000 inhabitants. PATIENTS AND OTHER PARTICIPANTS: The population under study were those patients who needed pharmacological treatment for a period longer than three months. The criteria of evaluation were: attendances and prescriptions dispensed at the UCCP, patient attendances avoided and time saved in medical consultations. MEASUREMENTS AND MAIN RESULTS: In 1986 there were 8,512 attendances at the UCCP (13.53% of the Centre's total attendance of 62,889), rising in 1992 to 12,884 (20.43% of the Centre's total of 63,078). In 1986 there were 18,000 prescriptions dispensed at the UCCP (16.38% of the Centre's total of 109,900) and in 1992, 41,500 (25.94% of the Centre's total of 160,000). The amount of time for medical consultations saved in the different years of the study ranged between 155 hours in 1986 and 536 in 1992. The index of prescriptions per attendance at the UCCP went up from 2.11 in 1986 to 3.22 in 1992. The index of attendances per patient and year was 12.09 in 1986 and 7.82 in 1992. CONCLUSIONS: A centralized unit for compliance with chronic treatments lessens the frequency of attendance for medical consultations, improves the patient's access renewed treatment and leads to a considerable saving in care time.