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Seizure Jul 2023Interstitial 6q deletions are associated with rare genetic syndromes characterized by different signs, including developmental delay, dysmorphisms, and Prader-Willi...
PURPOSE
Interstitial 6q deletions are associated with rare genetic syndromes characterized by different signs, including developmental delay, dysmorphisms, and Prader-Willi (PWS)-like features. Drug-resistant epilepsy, a relatively rare finding in this condition, is often a challenge in terms of therapeutic approach. Our aim is to present a new case of interstitial 6q deletion and to conduct a systematic review of the literature with an emphasis on the neurophysiological and clinical traits of afflicted individuals.
METHODS
We report a patient with an interstitial 6q deletion. Standard electroencephalograms (EEG), video-EEG with polygraphy and MRI features are discussed. We also conducted a literature review of previously described cases.
RESULTS
We describe a relatively small interstitial 6q deletion (2 Mb circa), detected by CGH-Array, not encompassing the previously described 6q22 critical region for epilepsy occurrence. The patient, a 12-year-old girl, presented with multiple absence-like episodes and startle-induced epileptic spasms since the age of 11, with partial polytherapy control. Treatment with lamotrigine induced the resolution of startle-induced phenomena. From the literature review, we identified 28 patients with overlapping deletions, often larger than our patient's mutation. Seventeen patients presented with PWS-like features. Epilepsy was reported in 4 patients, and 8 patients presented abnormal EEG findings. In our patient, the deletion included genes MCHR2, SIM1, ASCC3, and GRIK2, but, interestingly, it did not encompass the 6q22 critical region for epilepsy occurrence. The involvement of GRIK2 in the deletion may play a role.
CONCLUSION
Literature data are limited, and specific EEG or epileptological phenotypes cannot yet be identified. Epilepsy, although uncommon in the syndrome, deserves a specific diagnostic workup. We speculate on the existence of an additional locus in the 6q16.1-q21 region, different from the already hypothesized q22, promoting the development of epilepsy in affected patients.
Topics: Humans; Prader-Willi Syndrome; Chromosome Deletion; Phenotype; Mutation; Drug Resistant Epilepsy; Epilepsy; DNA Helicases
PubMed: 37210930
DOI: 10.1016/j.seizure.2023.05.011 -
Journal of Clinical and Experimental... Sep 2022Rapid maxillary expansion (RME) treatment is prescribed in patients with maxillary compression, achieving increases in transverse palate and nasal cavity dimensions... (Review)
Review
BACKGROUND
Rapid maxillary expansion (RME) treatment is prescribed in patients with maxillary compression, achieving increases in transverse palate and nasal cavity dimensions together with an increase in the distance between the pterygoid processes. Sleep apnoea-hypopnoea syndrome (SAHS) in children is often associated with anatomical risk factors and treatment may involve surgery, drugs, dentofacial orthopaedics, myofunctional and positional approaches.
MATERIAL AND METHODS
The aim of this systematic review it to obtain scientific evidence of the effect of RME on the apnoea-hypopnoea index (AHI) in growing patients. PubMed, Cochrane Library and EMBASE were the online databases used for the search. The scientific publications selected met the following inclusion criteria: articles published from 2011 to May 2021; growing patients undergoing rapid maxillary expansion surgery; and studies with records of AHI before and after rapid maxillary expansion using polysomnography or respiratory polygraphy.
RESULTS
Seven articles that provided the necessary quality of scientific evidence were finally selected. The review followed the Cochrane Handbook for Systematic Reviews of Interventions, version 5.1.0, and the GRADE approach for rating the certainty of evidence. Data analysis was performed using Numbers 4.3 and ReviewManager (RevMan) 5.4.1 software and GRADEpro and Mendeley online platforms.
CONCLUSIONS
The results show a reduction in AHI following RME therapy in growing patients. More research is needed with larger sample sizes, more specific inclusion criteria and standardised data sharing. Rapid maxillary expansion, maxillary distraction, sleep apnoea, children.
PubMed: 36158770
DOI: 10.4317/jced.59750 -
Brain and Behavior Dec 2018Sleep-Disordered Breathing (SDB) is frequent in stroke patients. Polysomnography (PSG) and cardiorespiratory polygraphy are used to confirm SDB, but the need for PSG...
OBJECTIVES
Sleep-Disordered Breathing (SDB) is frequent in stroke patients. Polysomnography (PSG) and cardiorespiratory polygraphy are used to confirm SDB, but the need for PSG exceeds the available resources for systematic testing. Therefore, a simple and robust pre-screening instrument is necessary to identify the patients with an urgent need for a targeted PSG. The aim of this systematic review was to identify and evaluate the available methods to pre-screen stroke patients possibly suffering from SDB.
MATERIALS AND METHODS
Eleven studies out of 3,561 studies met the inclusion criteria. The selected studies assessed the efficiency of seven instruments based on the data acquired clinically or by inquiries (Berlin Questionnaire, Epworth Sleepiness Scale, SOS, Modified Sleep Apnea Scale of the Sleep Disorders Questionnaire, STOP-BANG, Four-variable Screening Tool and Multivariate Apnea Index) and three physiological measures (capnography, nocturia, nocturnal oximetry). The instruments were used to predict SDB in patients after acute or subacute stroke. Either PSG or cardiorespiratory polygraphy was used as a standard to measure SDB.
RESULTS
No independent studies using the same questionnaires, methods or criteria were published reducing generalizability. Overall, the questionnaires were quite sensitive in finding SDB but not highly specific in identifying the non-affected. The physiological measures (capnography) indicated promising results in predicting SDB, but capnography is not an ideal pre-screening instrument as it requires a specialist to interpret the results.
CONCLUSIONS
The results of pre-screening of SDB in acute and subacute stroke patients are promising but inconsistent. The current pre-screening methods cannot readily be referred to clinicians in neurologic departments. Thus, it is necessary to conduct more research on developing novel pre-screening methods for detecting SDB after stroke.
Topics: Aged; Early Diagnosis; Female; Humans; Male; Middle Aged; Nocturia; Oximetry; Polysomnography; Sleep Apnea Syndromes; Stroke; Surveys and Questionnaires
PubMed: 30371010
DOI: 10.1002/brb3.1146 -
Journal of Clinical Sleep Medicine :... May 2018To estimate the prevalence of obstructive sleep apnea (OSA) in children with Down syndrome. (Meta-Analysis)
Meta-Analysis
STUDY OBJECTIVES
To estimate the prevalence of obstructive sleep apnea (OSA) in children with Down syndrome.
METHODS
Two authors independently searched databases, namely PubMed, MEDLINE, EMBASE, and the Cochrane Review database. The keywords used were "Down syndrome," "Trisomy 21," "OSA," "sleep apnea syndromes," "polysomnography" and "polygraphy." The prevalence of OSA based on apnea-hypopnea index (AHI) greater than 1, 1.5, 2, 5, and 10 event/h was estimated using a random-effects model. Subgroup analyses were conducted for children in different countries, sample size, study year, and risk of bias. Finally, the prevalence of OSA was compared between two types of sleep studies (polysomnography versus polygraphy).
RESULTS
A total of 18 studies (1,200 children) were included (mean age: 7.7 years; 56% boys; mean sample size: 67 patients). Five studies had low risk of bias, and nine and four studies had moderate and high risk of bias, respectively. The OSA was evaluated through polygraphy in 2 studies, and polysomnography in 16 studies. For children who underwent polysomnography, the prevalences of OSA based on AHI > 1, 1.5, 2, 5, and 10 events/h were 69%, 76%, 75%, 50%, and 34%, respectively. Subgroup analyses revealed no significant difference among all subgroups. Meta-regression showed that AHI > 5 events/h was inversely correlated with age ( < .001). Moreover, the prevalence of OSA based on AHI > 1.5 events/h was lower in polygraphy compared with polysomnography (59% versus 76%, = .037).
CONCLUSIONS
OSA is highly prevalent in children with Down syndrome. Prevalence of moderate to severe OSA is higher in younger age.
Topics: Child; Down Syndrome; Humans; Polysomnography; Prevalence; Sleep Apnea, Obstructive
PubMed: 29734982
DOI: 10.5664/jcsm.7126