[Ethical issues involved in communicating to a parent of a child's disability]. / Les enjeux éthiques liés à l'annonce d'un handicap chez l'enfant.

Ethics are an ever-present concern in medicine, and never more so than when it comes to announcing a child's disability. The healthcare professional must adopt an appropriate and respectful attitude in order to ensure that information that will change several lives is properly understood.

Clinical evaluation of attentional processes in children with benign childhood epilepsy with centrotemporal spikes (BCECTS).

The aim of this study was to identify the attentional processes specifically affected in children with benign childhood epilepsy with centrotemporal spikes (BCECTS). The impact of several factors - laterality of discharges, age-at-onset and duration of epilepsy, and medication - on these cognitive functions was also studied. A group of 29 children with BCECTS was evaluated using standardized tests performed in routine clinical practice and specifically designed to assess executive and attentional functions. This group obtained mean scores significantly lower than normative means specifically for tasks involving attention control processes, i.e. cognitive flexibility and inhibitory processes. Neither the epilepsy-related factors that we studied nor the medication appeared to influence performance of these tasks. These data suggest an impact of BCECTS on attentional processes, the most affected being attention control processes that develop late.

Effects of Methylphenidate on Default-Mode Network/Task-Positive Network Synchronization in Children With ADHD.

OBJECTIVE: A failure of the anti-phase synchronization between default-mode (DMN) and task-positive networks (TPN) may be involved in a main manifestation of ADHD: moment-to-moment variability. The study investigated whereby methylphenidate may improve TPN/DMN synchronization in ADHD. METHOD: Eleven drug-naive ADHD children and 11 typically developing (TD) children performed a flanker task during functional magnetic resonance imaging. The ADHD group was scanned without and 1 month later with methylphenidate. The signal was analyzed by independent component analysis. RESULTS: The TD group showed anti-phase DMN/TPN synchronization. The unmedicated ADHD group showed synchronous activity in the posterior DMN only, which was positively correlated with response time variability for the flanker task. Methylphenidate initiated a partial anti-phase TPN/DMN synchronization, reduced variability, and abolished the variability/DMN correlation. CONCLUSION: Although results should be interpreted cautiously because the sample size is small, they suggest that a failure of the TPN/DMN synchronization could be involved in the moment-to-moment variability in ADHD. Methylphenidate initiated TPN/DMN synchronization, which in turn appeared to reduce variability.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

BACKGROUND: Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early infantile epileptic encephalopathy 4 and other seizure phenotypes. Loss-of-function mutations of STXBP1 have also been identified in some patients with intellectual disability without epilepsy. Consequently, STXBP1 is widely assumed to be the gene causing both seizures and intellectual disability in patients with 9q33.3-q34.11 microdeletions. RESULTS: We report five patients with overlapping microdeletions of chromosome 9q33.3-q34.11, four of them previously unreported. Their common clinical features include intellectual disability, psychomotor developmental delay with delayed or absent speech, muscular hypotonia, and strabismus. Microcephaly and short stature are each present in four of the patients. Two of the patients had seizures. De novo deletions range from 1.23 to 4.13 Mb, whereas the smallest deletion of 432 kb in patient 3 was inherited from her mother who is reported to have mild intellectual disability. The smallest region of overlap (SRO) of these deletions in 9q33.3 does not encompass STXBP1, but includes two genes that have not been previously associated with disease, RALGPS1 and GARNL3. Sequencing of the two SRO genes RALGPS1 and GARNL3 in at least 156 unrelated patients with mild to severe idiopathic intellectual disability detected no causative mutations. Gene expression analyses in our patients demonstrated significantly reduced expression levels of GARNL3, RALGPS1 and STXBP1 only in patients with deletions of the corresponding genes. Thus, reduced expression of STXBP1 was ruled out as a cause for seizures in our patient whose deletion did not encompass STXBP1. CONCLUSIONS: We suggest that microdeletions of this region on chromosome 9q cause a clinical spectrum including intellectual disability, developmental delay especially concerning speech, microcephaly, short stature, mild dysmorphisms, strabismus, and seizures of incomplete penetrance, and may constitute a new contiguous gene deletion syndrome which cannot completely be explained by deletion of STXBP1.

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

Osteopathia striata with cranial sclerosis (OS-CS) is a rare syndrome comprising macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The diagnosis is based on radiological findings, including cranial sclerosis and longitudinal striations of metaphyses of long bones. Here we report on 10 new cases of OS-CS, including two sporadic cases and three families, with an excess of affected females (9F/1M). Phenotypic variability was observed in our patients as well as several unusual findings. Hirschsprung disease, Pierre Robin sequence, coronal craniostenosis, and laryngotracheomalacia were associated with a poor prognosis. The X-inactivation pattern of peripheral blood lymphocytes in a mildly affected mother and her severely affected boy demonstrated a non-random X-inactivation in the mother. This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X-linked dominant inheritance.

Autonomic responses to sighs in healthy infants and in victims of sudden infant death.

OBJECTIVE: Sigh, defined as an isolated breath with an increased tidal volume, can be associated with abrupt changes in heart rate (HR) or blood oxygenation. Sigh may be followed by a central apnea. As impairment of autonomic control was postulated in future SIDS victims, we hypothesized that their autonomic responses to sighs were different from those of healthy control infants. METHODS: Sighs followed by central apnea were studied in the sleep recordings of 18 infants who eventually died of SIDS and of 18 control infants. The infants of the two groups were matched for sex, gestational age, postnatal age, weight at birth and sleep position during sleep recording. HR autoregressive power spectral analysis was performed on RR intervals preceding and following sighs. RESULTS: In all infants, most sighs followed by an apnea were found in NREM sleep. Compared to the control infants, the future SIDS victims were characterized by a greater sympathovagal balance and a lower parasympathetic tonus before the sighs. Following the sighs, no more differences were found in NREM sleep. CONCLUSION: Based on the present findings, it can be postulated that sighs contribute to reset autonomic tonus during NREM sleep.

[Living in respect of others in a healthcare institution]. / Comment vivre le respect d'autrui en institution?

Since Hippocrates, "first, do no harm" is one of the fundamental principles of healthcare which caregivers attempt to put into practice in all their encounters with others in need of care. Principles of justice, well-doing, autonomy and proportionality have helped to enrich the caregiver's reflection.

Use of the oculocardiac reflex to assess vagal reactivity during quiet sleep in neonates.

Arousal from sleep can be a protective response to life-threatening stimuli. Hence, faults within state-switching processes may lead to fatal events. To investigate the role of the nervous system during cardiac failure triggered by phasic, vagally mediated stimulation, we analysed autonomic and behavioural reactions in 50 premature neonates during quiet sleep (QS) -- a sleep state characterized by a preponderance of tonic, parasympathetic activity. Bradycardia was induced with a standardized ocular compression test. Neither awakening nor behavioural escape reactions were observed during or after an episode of bradycardia. Eighty-six per cent of the provoked bradycardic episodes induced central apnoea. During QS, the neonates' respiratory response and arousability were found to be time-dependent: when the test was performed early in the QS episode, apnoea was more frequent (94%), and no sleep state change occurred. When ocular compression was performed in the later part of the QS episode, a transition towards active sleep was observed, together with significantly fewer episodes of apnoea (64%). These results indicate that a progressive decrease in the respiratory system's responsiveness to phasic, parasympathetic stimulation occurs during QS, whereas arousability increases. Our study suggests that newborns could be more vulnerable to potentially fatal events during the initial portion of a QS episode.