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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