By means of polygraphic sleep recording, the sleep apnea profile with respect to the number and duration of inactive, obstructive and mixed apneic episodes as well as periodic breathing has been investigated in infants born preterm at 40, 52 and 64 weeks conceptional age and compared to that of term infants. At 40 weeks preterm infants showed significantly more apnea and periodic breathing compared to term infants. The difference was essentially due to obstructive and mixed apnea in non-REM sleep. There was a sharp decrease in all apneic variables--inactive, obstructive and mixed apnea as well as of periodic breathing--at 52 weeks conceptional age in infants that were previously preterm. Both groups exhibited a rather identical sleep apnea profile at 64 weeks. Two prospectively studied infants in the preterm group later became SIDS victims. One of them might have been identified as being at risk on the basis of his apnea profile compared to the normative data now available.
A boy and a girl born to a consanguineous Tunisian couple are suffering from a slowly progressive nervous disorder. Initially they both had normal psychomotor development with acquisition of gait and speech. First symptoms in the boy were athetoid movements during the second year of life. He later lost all motor and language skills and developed muscular rigidity and intention tremor. At the age of five years, he was completely bedridden while he appeared mentally much less affected. His younger sister followed a similar course. The major specific abnormality detected was a strikingly elevated excretion of 2-oxoglutaric acid, which was identified by gas liquid chromatography, mass spectrometry, and enzymatic analysis. 2-oxoglutarate dehydrogenase activity in homogenates of cultured skin fibroblasts was reduced to about 25% of control values in both children. Although the pathogenetic mechanisms leading to brain damage remain obscure, the finding strongly suggest an autosomal recessive neurometabolic disease with predominant involvement of the extrapyramidal system.
The clinical courses of 17 JNCL patients were analyzed retrospectively with the use of a simple, disease-specific scoring system. The mean observation period was 14 years (range 8-18 years). Scores of 0 (maximal dysfunction) to 3 (normal function) were assigned to each patient's vision, intellect, language, motor function, and epilepsy for each year of observation. The lapse of medians and ranges of all patients' scores were established from age 3 to 20 years. This scoring system allowed quantitative description of an individual course in context of the wide natural variability of the disease. Patients with seizures starting before the age of 10 years tended to have intractable epilepsy, to receive multiple antiepileptic drug therapies, and to have poor courses including problems not related to epilepsy. One patient had a course clearly outside the usual variability of JNCL and is thought to represent a genetic variant.
We report on a 6-month-old boy with craniosynostosis, pseudohypoparathyroidism type 1a (PHP1A), and a GNAS gene mutation. He had synostoses of the coronal, frontal, and sagittal sutures, brachyturricephaly, and hydrocephaly. He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia. Because of progressive hydrocephaly, the synostosis was corrected surgically but circulatory decompensation led to disseminated intravascular coagulation and cerebral infarctions. Our patient died 8 days later. Postmortem molecular studies of GNAS, the gene for guanine nucleotide-binding protein, alpha-stimulating activity polypeptide (gene for PHP1A), identified a de novo heterozygous 3 bp in frame deletion predicting a deletion of the asparagine residue at position 377 (deltaN377). This is the second report of this mutation. Results of molecular studies of craniosynostosis genes (FGFR2, FGFR3) and of numerous genetic variants predisposing to bleeding disorders were normal. We question whether craniosynostosis and trauma-induced bleeding disorder may be manifestations of PHP1A, or if our patient had two or three different congenital disorders.
Changes in respiration and heart rate during sleep states have been recorded by a polygraphic device in healthy preterm infants. Cardiac slowing/bradycardia often coincide with respiratory arrest/apnea. Bradycardia starts early during apneic spells. The incidence of respiratory arrest and cardiac slowing and their simultaneous occurrence is significantly increased by the active or REM sleep state. The physiologic, inhibitory mechanisms of active sleep suggest a neurogenic etiology of episodes of cardiac slowing/bradycardia and/or respiratory arrest/apnea in prematures.
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