Biomedical subjects

Elisabetta Verrillo

Publications and source records attributed to Elisabetta Verrillo.

5 recordsLinked to original sources

PubMed2005

Sleep breathing and periodic leg movement pattern in Angelman Syndrome: a polysomnographic study.

OBJECTIVE: The aim of this study was to evaluate the sleep breathing patterns and to detect the eventual presence of periodic leg movements (PLMs) in patients affected by Angelman syndrome (AS). METHODS: Ten children with AS were recruited to participate in the study; the clinical diagnosis was confirmed by the genetic analysis (maternal 15q deletion, uniparental paternal disomy, or mutation of the UBE3A gene). All patients but two had presented epileptic seizures. Two age-matched groups of patients with mental retardation (MR) associated (MRE+) or not (MRE-) to epilepsy were used as control groups. All subjects underwent one polysomnographic recording, after one adaptation night. Sleep stages were scored according to standard criteria slightly modified in order to take into account the specific EEG patterns of AS, also the apnea/hypopnea index (AHI) was quantified; PLMs were identified and the PLM index (PLMI) was computed. The statistical analysis was carried out by means of the one-way ANOVA, followed by the Fisher LSD post-hoc test, when appropriate, and by means of the linear correlation coefficient between AHI and PLMI. RESULTS: Sleep macrostructure showed only few significant differences between children with AS and the other two groups of subjects: AS patients showed higher percentage of wakefulness after sleep onset and sleep onset latency; moreover, the percentage of REM sleep was reduced in AS and in MRE+ subjects. A tendency for AS subjects to present a higher PLMI than the other two groups was also found. AHI >5 was found in 30% of AS subjects, in 30.8% of MRE+, and only in 20% of MRE- patients (chi(2) = 2.359, NS); 70% of AS patients, 38.5% of MRE+, and 46.7% of MRE- subjects had PLMI >5 (chi(2) = 3.088, NS). CONCLUSIONS: These results confirm our previous questionnaire-based findings of a high prevalence of sleep breathing disorder and important PLMs in AS and allow us to hypothesize that epilepsy, rather than mental retardation, might exacerbate these sleep disorders. SIGNIFICANCE: Sleep breathing disorder and PLMs might contribute to the cognitive impairment and to the worsening of life quality of subjects with AS and with MR (mostly those with epilepsy). Therefore, our findings suggest the need to explore these sleep disorders in children affected by MR and to set up a correct treatment.

Adolescent↗

PubMed2005

Sleep cyclic alternating pattern in normal preschool-aged children.

STUDY OBJECTIVES: To evaluate the characteristics of the cyclic alternating pattern (CAP) in the sleep of preschool-aged children in order to obtain normative parameters in this age range. DESIGN: Prospective study. SETTINGS: University sleep laboratory. PARTICIPANTS: Ten normal healthy subjects (6 girls and 4 boys, mean age 4.6 years; range 3-6 years) underwent polysomnography recordings for 2 consecutive nights in a standard laboratory setting. Sleep data were stored on a computer using a polysomnography digital system (Embla N7000, Medcare, Iceland). Sleep structure was visually scored according to the Rechtschaffen and Kales criteria. The cyclic alternating pattern was visually scored following the criteria by Terzano et al. These criteria were modified for the purposes of this study because it was noticed that, at the age of the group under analysis, most electroencephalogram arousals, often accompanied by electromyogram activation, are expressed at the level of the electroencephalogram by theta frequencies and not alpha or higher frequencies. MEASUREMENTS AND RESULTS: The CAP rate in preschool-aged children (25.93%) showed a progressive increase with the deepness of sleep, with highest values during non-rapid eye movement (NREM) stage 3 (44.0%) and 4 sleep (46.08%) and lowest values in NREM stage 2 (17.26%). The CAP time showed its longest duration during stage 2 sleep, followed by stage 4, stage 3, and NREM stage 1. The CAP cycle duration showed no differences across NREM stages. The cyclic alternating pattern phase A was longer and phase B was shorter during stage 1 than during stages 2, 3, and 4. A1 phases were the most numerous (63.2%), followed by A2 (21.5%) and by A3 (15.3%). The distribution of A-phase subtypes across NREM sleep stages (A index) showed significant differences for the A1 subtypes that occurred more frequently during stage 3 and 4 sleep than during stages 1 and 2. The A2 index showed no significant differences across NREM sleep stages, while the A3 index was significantly higher during stage 1 sleep than during stages 2, 3, and 4. The analysis of the A1 interval distribution showed a log-normal-like distribution with a peak around 25 seconds for the A1 phases and no clear peak for A2-A3 phases. CONCLUSIONS: The analysis of CAP in preschool-aged children is characterized by an increase of CAP rate during slow-wave sleep and a high percentage of A1 phases and A2 phases. However, the lower percentage of A1 paralleled by an increase of A2 could represent a signal of higher sleep instability in this age group as compared with prepubertal school-aged children.

Adaptation, Physiological↗

PubMed2004

L -5-Hydroxytryptophan treatment of sleep terrors in children.

UNLABELLED: To test the hypothesis that the administration of L -5-hydroxytryptophan (L -5-HTP) might exert beneficial effects on sleep terrors, we carried out an open pharmacological trial in a group of children with sleep terrors compared to a group of children with the same disorder but without L -5-HTP treatment. Participants in the trial were 45 children (34 males and 11 females; age range 3.2-10.6 years), referred to the Sleep Centre of the Department of Developmental Neurology and Psychiatry of the University of Rome "La Sapienza", affected by sleep terrors. All subjects underwent: (1) complete medical and sleep history; (2) complete neurological examination and EEG recording whilst awake and sleeping, (3) a structured sleep diary for 2 months, (4) after 1 month, all subjects were examined again from the clinical and EEG points of view and (5) after 6 months, a structured interview in order to evaluate the clinical outcome. After the first visit, L -5-HTP was administered (2 mg/kg per day) at bedtime to 31 randomly selected patients for a single period of 20 consecutive days. After 1 month of treatment, 29/31 (93.5%) of patients showed a positive response. In the comparison group without drug therapy, after 1 month, the episodes disappeared only in four children (28.6%) while ten children (71.4%) showed the persistence of episodes with the same frequency as before. After 6 months, 26/31 (83.9%) of children treated with L -5HTP were sleep terror-free, while in five children (16.1%) sleep terror episodes persisted. Of the children in the comparison group, ten (71.4%) continued to show sleep terrors at 6-month follow-up. CONCLUSION: to our knowledge, this is the first study demonstrating the efficacy of a new drug treatment for sleep terrors. These results confirm our initial hypothesis and represent evidence that treatment with L -5-hydroxytryptophan is able to modulate the arousal level in children and to induce a long-term improvement of sleep terrors.

5-Hydroxytryptophan↗

PubMed2004

Sleep polygraphy in Angelman syndrome.

OBJECTIVE: Sleep disturbances are frequent in Angelman syndrome (AS); however, beside the few studies which have investigated sleep disorders in AS by means of questionnaires, to our knowledge, no systematic polysomnographic recordings have been carried out in AS patients. The present study represents the first attempt to study sleep patterns of AS by polysomnography, to evaluate the influences of sleep on the paroxysmal electroencephalogram (EEG) patterns of AS and to assess the eventual age-related changes of sleep architecture and of sleep EEG abnormalities in children and adolescents with AS. METHODS: Fifteen children with AS (7 males and 8 females, mean age 7.2 years, range 3-16 years), attending the Sleep Center of the Department of Child Neurology and Psychiatry of the University of Rome 'La Sapienza' and the Sleep Research Centre of the Oasi Institute (IRCCS) of Troina were included and subdivided into two subgroups by age: subgroup 1, aged 3-5 years, and subgroup 2, aged 9-17 years. Two control groups of age-matched normal subjects were also included: one aged less than 8 years and another aged more than 8 years; additionally, two other groups of age-matched children with epilepsy and mental retardation of different origin, one aged less and one aged more than 9 years were taken into consideration. The statistical comparison between the sleep parameters obtained from the patients and those from the other groups was carried out by means of the non-parametric Kruskal-Wallis ANOVA and the Mann-Whitney U test. RESULTS: The most frequent EEG abnormality found in AS patients appeared to be the 2-3 c/s poorly defined spike/waves complexes. This pattern was influenced by sleep stages; the duration of the runs showed an increasing length with sleep deepening from sleep stage 1 to slow-wave sleep (SWS). Moreover, the 2-3 c/s bursts activity present in sleep stage 2 showed a slowing to 1-2 c/s during SWS. Regarding sleep architecture, in subjects with AS aged <8 year there was a significant reduction in sleep efficiency as compared to normal controls, while the percentage and duration of REM sleep was significantly lower and the percentage of SWS was significantly higher. REM sleep time was reduced in AS subjects aged >8 years than in normal controls. The comparison between AS groups and mental retardation with epilepsy groups did not show significant differences. CONCLUSIONS: Similarly to other types of genetically determined mental retardation syndromes, also subjects with AS seems to show important abnormalities of their sleep polysomnographic patterns. SIGNIFICANCE: This is the first study which reports, in detail, these abnormalities and opens a new path for further insight into the knowledge of additional sleep-related disturbances which are reported in sleep questionnaires by the caregivers of AS subjects.

Adolescent↗

PubMed2002

Sleep cyclic alternating pattern in normal school-age children.

OBJECTIVES: To evaluate cyclic alternating pattern (CAP) in sleep of school-age children in order to obtain a standardized database for CAP parameters in this age range. METHODS: CAP parameters were quantified in 10 normal healthy subjects (6 males and 4 females, mean age 8.3 years; range 6-10 years). All subjects underwent polysomnography recordings for two consecutive nights in a standard laboratory setting. Sleep data were stored on computer using a 16-channel polysomnography digital system. Sleep macrostructure was visually scored according to the criteria by Rechtschaffen and Kales (Brain Information Service/Brain Research Institute, University of California, Los Angeles, 1968); CAP was visually scored following the criteria by Terzano et al. (Sleep Med 2 (2001) 537). RESULTS: CAP rate showed a progressive increase with the deepness of sleep, with high values during slow wave sleep (SWS). CAP time showed its longest duration during non-REM (NREM) sleep stage 2 (S2), followed by SWS and sleep stage 1 (S1). No differences across NREM sleep stages were found for CAP cycle and phase B mean duration; on the contrary, phase A showed longer duration during SWS than in S1 and S2. Phases A1 were the most numerous (84.45%) followed by A3 (9.14%) and by A2 (6.44%). The distribution of phases A subtypes across NREM stages showed significant differences for the A1 subtypes that occurred more frequently during SWS than in S2 and S1 (and during S2 than in S1). Subtypes A3 were more frequent during S1 than SWS while no differences were found for subtype A2. The analysis of A1 interval distribution showed a log-normal-like distribution with a peak around 25 s for the A1 phases and no clear peak for A2-A3 phases. CONCLUSIONS: The analysis of CAP in school-age children is characterized by an increase of CAP rate during SWS and a high percentage of A1 phases. The distribution of interval between consecutive A1 phases showed a peak around 25 s.

Child↗