A Boy with an LCR3/4-Flanked 10q22.3q23.2 Microdeletion and Uncommon Phenotypic Features.

The recurrent 10q22.3q23.2 deletion with breakpoints within low copy repeats 3 and 4 is a rare genomic disorder, reported in only 13 patients to date. The phenotype is rather uncharacteristic, which makes a clinical diagnosis difficult. A phenotypic feature described in almost all patients is a delay in speech development, albeit systematic studies are still pending. In this study, we report on a boy with an LCR3/4-flanked 10q22.3q23.2 deletion exhibiting an age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate - a feature not present in any of the patients described before. Previously reported cases are reviewed, and the role of the BMPR1A gene is discussed. The phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable, so counseling the families regarding the prognosis of an affected child should be done with caution. Long-term studies of affected children are needed to delineate the natural history of this rare disorder.

Developmental aspects of infant's cry melody and formants.

This paper deals with the analysis of cry melodies (time variations of the fundamental frequency) as well as vocal tract resonance frequencies (formants) from infant cry signals. The increase of complexity of cry melodies is a good indicator for neuro-muscular maturation as well as for the evaluation of pre-speech development. The variation of formant frequencies allows an estimation of articulatory activity during pre-speech vocalization. Subjects are three pairs of healthy identical twins (monocygozity determined by DNA-fingerprint). Spontaneous cries of these six children were recorded at different ages: 8th-9th week, 15th-17th week and 23rd-24th week. Analysis of 136 cry melodies and intensity contours was made using KAY-CSL 4300/MDVP. For formant estimation a spectral parametric technique was applied, which was based on autoregressive models (Digital spectral analysis with applications, 1987) whose order is adaptively estimated on subsequent signal frames by means of a new method (Med. Eng. Phys. 20 (1998) 432; Utras. Med. Biol. 21 (1995) 793). Cry melodies exhibited an increasing complexity during the observation period. Beginning with the second observation period (15th-17th week) an increasing coupling and tuning between melody and resonance frequencies was observed, which was interpreted as "intentional" articulatory activity. Possible applications are in cry diagnosis as well as in the evaluation of pre-speech development.

[West syndrome: a chronobiological approach]. / Síndrome de West: una aproximación cronobiológica.

INTRODUCTION AND OBJECTIVES: Chronobiology is the discipline involving the study of the time structure of living creatures. Since it has been shown that there is non-chaotic recurrence, at precise intervals of time, of different functions from unicellular level to complex human systems, rhythmometric evaluation of key activities such as the activity-rest and sleeping-waking cycles appear to be useful non-invasive instruments for study of time structure in patients with episodic illness of the central nervous system (CNS) such as the epilepsies, in this case a serious variety of this disorder in childhood: West's syndrome. PATIENTS AND METHODS: We studied the activity-rest and sleep-waking cycles of two patients with West's syndrome and also their parents, using actometres (ZAK, made in Germany). At the same time the parents kept diaries (which they had previously been taught to do) at intervals of 20 minutes. They recorded the time of meals, administration of medicines, occurrence of seizures and data regarding the sleep of the patients. On subsequent analysis actograms were obtained. These are quantitative recordings of continuous motor activity. RESULTS: A rhythm of a type lasting more than 24 hours was observed during the activity-rest and sleep-waking cycles in both patients, with predominance of seizures during the early hours of the day. There was also a high degree of synchronization in the mother-child interactions. CONCLUSION: The presence of a rhythm of more than 24 hours in activity-rest and sleeping-waking shows the marked immaturity of the CNS in these patients, directly related to the severity of this type of epilepsy.

Síndrome de west: una aproximación cronobiológica / West syndrome: a chronobiological approach

La cronobiología es la disciplina encargada del estudio de la estructura temporal en los seres vivos. Al quedar demostrada la recurrencia no caótica en intervalos precisos de tiempo, de diversas funciones desde el nivel unicelular hasta los sistemas más complejos de la especie humana, la evaluación ritmométrica de funciones clave como el ciclo de actividad-reposo y el de sueño-vigilia surge como una herramienta útil y no invasiva para el estudio de la estructura temporal en pacientes que sufren enfermedades episódicas del sistema nervioso central (SNC) como las epilepsias, en este caso una modalidad grave de las mismas en la infancia: el síndrome de West. Pacientes y métodos. Se estudiaron los ciclos de actividad-reposo y de sueño-vigilia de dos pacientes afectados por el síndrome de West y de sus padres, mediante la utilización de actómetros marca ZAK de origen alemán. Paralelamente, los padres confeccionaron un diario, previo entrenamiento, con una periodicidad de 20 minutos, en el que especificaron horarios de comida, ingestión de medicamentos, presencia de crisis y datos acerca del sueño de los pacientes. En un análisis ulterior se obtuvieron los actogramas, que son un registro cuantitativo de la actividad motora continua. Resultados. Se observó la presencia de ritmo de tipo ultradiano en los ciclos de actividad-reposo y de sueño-vigilia en ambos pacientes, y un predominio de las crisis en la madrugada; además, se encontró un alto grado de sincronización en las interacciones madre-niño. Conclusión. La presencia del ritmo ultradiano en la actividad-reposo, así como en la de sueño-vigilia, pone de manifiesto gran inmadurez en el SNC de estos pacientes, en relación directa con la gravedad de este tipo de epilepsia(AU)

Chronobiology is the discipline involving the study of the time structure of living creatures. Since it has been shown that there is non-chaotic recurrence, at precise intervals of time, of different functions from unicellular level to complex human systems, rhythmometric evaluation of key activities such as the activity-rest and sleeping- waking cycles appear to be useful non-invasive instruments for study of time structure in patients with episodic illness of the central nervous system (CNS) such as the epilepsies, in this case a serious variety of this disorder in childhood: Wests syndrome. Patients and methods. We studied the activity-rest and sleep-waking cycles of two patients with Wests syndrome and also their parents, using actometres (ZAK, made in Germany). At the same time the parents kept diaries (which they had previously been taught to do) at intervals of 20 minutes. They recorded the times of meals, administration of medicines, occurrence of seizures and data regarding the sleep of the patients. On subsequent analysis actograms were obtained. These are quantitative recordings of continuous motor activity. Results. A rhythm of a type lasting more than 24 hours was observed during the activity-rest and sleep-waking cycles in both patients, with predominance of seizures during the early hours of the day. There was also a high degree of synchronization in the mother-child interactions. Conclusion. The presence of a rhythm of more than 24 hours in activity-rest and sleeping-waking shows the marked immaturity of the CNS in these patients, directly related to the severity of this type of epilepsy(AU)

A cronobiologia é a disciplina en carregue do estudo da estrutura temporal nos seres vivos. Ao ficar demonstrada a recorrência não caótica, a intervalos precisos de tem po, de diversas funções desde o nível unicelular até aos sistemas mais complexos da espécie humana, a avaliação ritmométrica de funções chave como o ciclo de actividade-repouso e a de sono-vigília, surgem como ferramentas úteis e não invasivas para o estudo da estrutura temporal em doentes que sofram de doenças episódicas do sistema nervoso central (SNC) como as epilepsias, neste caso uma modalidade grave das mesmas na infância: a síndroma de West. Doentes e métodos. Foram estudados os ciclos de actividade-repouso e de sonovigília de dois doentes afectados pela síndroma de West e de seus pais, mediante a utilização de actómetros marca ZAK de origem alemã. Paralelamente, os pais redigiram um diário, após treino prévio, com uma periodicidade de 20 minutos, em que especificaram os horários das refeições, da ingestão de medicamentos, da presença de crises e dados acerca do sono dos doentes. Numa análise posterior obtiveramse os actogramas, que são um registos quantitativo da actividade motora contínua. Resultados. Observou-se a presença de ritmos de tipo ultradiano nos ciclos de actividade-repouso e nos ciclos de sonovigília em ambos os doentes, e um predomínio das crises na madrugada; além disso, encontrou-se um alto grau de sincronização nas interacções mãe-filho. Conclusão. A presença do ritmo ultradiano no ciclo de actividade-repouso, bem como no de sonovigília, revela uma grande imaturidade do SNC destes doentes, em relação directa com a gravidade deste tipo de epilepsia(AU)

Síndrome de West: una aproximación cronobiológica / West syndrome: a chronobiological approach

Introducción y objetivos. La cronobiología es la disciplina encargada del estudio de la estructura temporal en los seres vivos. Al quedar demostrada la recurrencia no caótica en intervalos precisos de tiempo, de diversas funciones desde el nivel unicelular hasta los sistemas más complejos de la especie humana, la evaluación ritmométrica de funciones clave como el ciclo de actividad-reposo y el de sueño-vigilia surge como una herramienta útil y no invasiva para el estudio de la estructura temporal en pacientes que sufren enfermedades episódicas del sistema nervioso central (SNC) como las epilepsias, en este caso una modalidad grave de las mismas en la infancia: el síndrome de West. Pacientes y métodos. Se estudiaron los ciclos de actividad-reposo y de sueño-vigilia de dos pacientes afectados por el síndrome de West y de sus padres, mediante la utilización de actómetros marca ZAK de origen alemán. Paralelamente, los padres confeccionaron un diario, previo entrenamiento, con una periodicidad de 20 minutos, en el que especificaron horarios de comida, ingestión de medicamentos, presencia de crisis y datos acerca del sueño de los pacientes. En un análisis ulterior se obtuvieron los actogramas, que son un registro cuantitativo de la actividad motora continua. Resultados. Se observó la presencia de ritmos de tipo ultradiano en los ciclos de actividad-reposo y de sueño-vigilia en ambos pacientes, y un predominio de las crisis en la madrugada; además, se encontró un alto grado de sincronización en las interacciones madre-niño. Conclusión. La presencia del ritmo ultradiano en la actividad-reposo, así como en la de sueño-vigilia, pone de manifiesto gran inmadurez en el SNC de estos pacientes, en relación directa con la gravedad de este tipo de epilepsia (AU)