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.

Both Sulthiame and Levetiracetam influence the EEG of children with BECTS. Persistent EEG pathologies are associated with treatment failures.

This study presents six patients with hypothalamic hamartomas diagnosed on the basis of magnetic resonance imaging. Histological confirmation was performed in three patients who underwent surgery. Immunohistological assays were used to determine the neurosecretory pattern. Four patients presented with epilepsy, including gelastic seizures. Other symptoms included behavioral abnormalities in four patients and precocious puberty and visual impairment in two patients. One patient presented associated developmental defects. Good results without morbidity were achieved with surgical resectioning in two patients with large hamartomas associated with behavioral abnormalities and gelastic epilepsy that was unresponsive to conventional medical treatment and in one patient with visual impairment. We propose a classification of the hypothalamic hamartomas based on topographical and clinical data obtained from 36 selected cases in the literature and six of our own cases. This classification should help to classify the various treatment methods and the surgical risks into four subgroups (Types la, lb, lla, and llb). We conclude that the surgical approach is a realistic alternative in certain cases, including large and broad-based Type llb hamartomas associated with gelastic epilepsy and behavioral disorders.

This study presents six patients with hypothalamic hamartomas diagnosed on the basis of magnetic resonance imaging. Histological confirmation was performed in three patients who underwent surgery. Immunohistological assays were used to determine the neurosecretory pattern. Four patients presented with epilepsy, including gelastic seizures. Other symptoms included behavioral abnormalities in four patients and precocious puberty and visual impairment in two patients. One patient presented associated developmental defects. Good results without morbidity were achieved with surgical resectioning in two patients with large hamartomas associated with behavioral abnormalities and gelastic epilepsy that was unresponsive to conventional medical treatment and in one patient with visual impairment. We propose a classification of the hypothalamic hamartomas based on topographical and clinical data obtained from 36 selected cases in the literature and six of our own cases. This classification should help to classify the various treatment methods and the surgical risks into four subgroups (Types la, lb, lla, and llb). We conclude that the surgical approach is a realistic alternative in certain cases, including large and broad-based Type llb hamartomas associated with gelastic epilepsy and behavioral disorders.

Pathomechanisms involved in obstructive apneas remain obscure. Apnea arousal failure has been proposed as a cause for sudden death during sleep. The present study hypothesizes an interdependency between upper airway dilating submental muscle electromyogram (EMG) activity (EMGsub), diaphragmatic muscle activity (EMGdia), incidence of bradycardia, and transcutaneous measured Po, (tcpO,) upon termination of apnea. Polygraphic recordings, including surface EMG (EMGsub, EMGdia), EEG, ECG, and transcutaneous Po,/Pco, (tcpO,/ tcpCO,) were performed on 10 preterm infants at 36, 40, 44, and 52 wk of conceptional age. EMGsub increased initially, then decreased in 28 of 33 non-rapid eye movement (N-REM) sleep apneas (REM: 35 of 69 events). This correlated with a decrease of tcpO2 during N-REM sleep ( y < 0.05). A parallel decrease of EMGsub and EMGdia was correlated with the occurrence of bradycardia (REM and N-REM: p < 0.01). Concomitant termination of apnea and bradycardia (n = 22), occurred in the presence of a phasic, simultaneous activation of EMGsub and EMGdia in 64% of REM sleep and in 79% of N-REM sleeprelated event, was characterized by a deep inspiration preceded by a short expiration, and correlated with the extent of tcp0,-Prolonged apneas accompanied by hypoxemia frequently occur in preterm infants (1-3) especially in those recovering from respiratory distress syndrome (4) during the first months of life, A loss of balance between submental E M G activity (representing mainly the protruding and thus upper airway dilating muscle force of m. genioglossus) and diaphragmatic E M G has been proposed as playing a leading role in the incidence of obstructive apneas (5-7). In contrast to adults (8), in children no significant decrease of EMGsub was found at onset of apneas (9), but a preferential activation of EMGsub accompanied termination of apneas in both adults and children (8, 9). Bradycardia during apnea is a common finding (10).

Vitamin B (12) deficiency can easily be diagnosed by detection of methylmalonic acid when measuring the organic acids in urine. Vitamin B (12) deficiency should be avoided or diagnosed as early as possible since a supplementation of mother and child can prevent neurological symptoms of the baby. Furthermore, the neurological symptoms of the infant with manifest vitamin B (12) deficiency are (partially) reversible.

Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. Additionally, we describe several new transcript variants of the APTX gene and discuss their relevance for a sufficient mutation screening.

During the last decade evidence has been accumulated that there might be a continuum from normally occurring short spells of apnea during sleep to life threatening long lasting respiratory pauses with marked bradycardia or even cardiac arrest from which, however, the infant could be resuscitated - the so-called Near Miss for Sudden Infant Death Event - and finally, to the Sudden Infant Death Syndrome (SIDS). There are still many missing links between these three phenomena and it seems likely that the connection between all three is not a straight matter in degree of immature dysfunction of cardiorespiratory control mechanisms. However, no other concept has shead so much light on SIDS and - most probably - no other concept with its consequence of continuous home monitoring has already salvaged so many babies as research into the different sleep apnea syndromes during infancy. However, for the final evaluation of the above mentioned hypothesis two issues urgently need clarification: a) How much apnea is normal at different ages and in different risk groups of infants. b) Can "near miss infants" or future victims of SIDS be identified on the basis of the amount of apnea prior to the event. In the first part of this survey brain mechanisms possibly underlying both, sleep apnea and serious apneic events will be discussed. In the second part new normative data on the amount of apnea will be presented together with 2 extraordinary cases who could be studied by means of longterm polygraphic sleep recordings prior to a definitely serious near miss event in one case and a crib death in another.