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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 -
International Journal of Cardiology Feb 2022A particularly high burden of sleep apnoea is reported in patients treated with cardiac implants such as pacemakers and defibrillators. Sleep apnoea diagnosis remains a... (Meta-Analysis)
Meta-Analysis
BACKGROUND
A particularly high burden of sleep apnoea is reported in patients treated with cardiac implants such as pacemakers and defibrillators. Sleep apnoea diagnosis remains a complex procedure mainly based on sleep and respiratory indices captured by polysomnography (PSG) or respiratory polygraphy (PG).
AIM
We aimed to evaluate the performance of implantable cardiac devices for sleep apnoea diagnosis compared to reference methods.
METHOD
Systematic structured literature searches were performed in PubMed, Embase and. Cochrane Library was performed to identify relevant studies. Quantitative characteristics of the studies were summarized and a qualitative synthesis was performed by a randomized bivariate meta-analysis and completed by pre-specified sensitivity analyses for different implant types and brands.
RESULTS
16 studies involving 999 patients met inclusion criteria and were included in the meta-analysis. The majority of patients were men, of mean age of 64 ± 4.6 years. Sensitivity of cardiac implants for sleep apnoea diagnosis ranged from 60 to 100%, specificity from 50 to 100% with a prevalence of sleep apnoea varying from 22 to 91%. For an apnoea-hypopnoea index threshold ≥30 events/h during polysomnography (corresponding to severe sleep apnoea), the overall performance of the implants was relevant with a sensitivity of 78% and a specificity of 79%. Subgroup analyses on implant type and brand provided no additional information owing to the small number of studies.
CONCLUSION
The respiratory disturbance index provided by cardiac implants is clinically relevant and might improve access to sleep apnoea diagnosis in at-risk cardiovascular populations. PROSPERO Registration number: CRD42020181656.
Topics: Aged; Defibrillators, Implantable; Female; Humans; Male; Middle Aged; Polysomnography; Prevalence; Sleep; Sleep Apnea Syndromes
PubMed: 34906614
DOI: 10.1016/j.ijcard.2021.12.014 -
Journal of Oral Rehabilitation Mar 2022Sleep-disordered breathing (SDB) has negative influence on children's development and well-being. Malocclusion due to some craniofacial anatomical characteristics may be... (Review)
Review
BACKGROUND
Sleep-disordered breathing (SDB) has negative influence on children's development and well-being. Malocclusion due to some craniofacial anatomical characteristics may be associated with SDB.
OBJECTIVES
The aim of this paper is to ascertain whether SDB is associated with malocclusion in children/adolescents, aged 6-15 years compared to healthy controls.
METHODS
Prospero ID: CRD42021232103. A systematic electronic literature search following PRISMA was performed in PubMed, Embase and Cochrane Library. Inclusion criteria were as follows: Healthy children/adolescents aged 6-15 years with malocclusion undergoing polysomnography (PSG) or polygraphy (PG) and/or sleep questionnaire and orthodontic screening; compared to a healthy age-matched control group with neutral or minor deviation in the occlusion without requirement for orthodontic treatment; publications in English, Danish, Norwegian or Swedish published until 23 March 2021. JBI Critical Appraisal Tools and GRADE were used to evaluate the risk of bias and level of evidence.
RESULTS
The search resulted in 1996 records, 610 duplicates were removed, 1386 records were screened, and 1322 records were excluded. Sixty-four studies were selected for full-text reading, and four publications fulfilled the inclusion criteria. The included studies had moderate risk of bias, and the quality of evidence was low.
CONCLUSION
No firm conclusion can be drawn regarding an association between specific malocclusion traits and SDB. Thus, the studies found no association between molar relationship and crowding and SDB symptoms in children. It may be recommended that future studies include objective PSG or PG in diagnosis of SDB and compare groups of children with skeletal malocclusion and controls with neutral malocclusion.
Topics: Adolescent; Child; Humans; Malocclusion; Polysomnography; Sleep Apnea Syndromes; Surveys and Questionnaires
PubMed: 34779522
DOI: 10.1111/joor.13282