scholarly journals A Rare Cause of Sleep-Disordered Breathing: ROHHAD Syndrome

2020 ◽  
Vol 8 ◽  
Author(s):  
Gizem Özcan ◽  
Elif Özsu ◽  
Zeynep Şiklar ◽  
Nazan Çobanoğlu

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) syndrome; is a rare but crucial disorder. Sleep-disordered breathing can occur at the beginning or after of obesity. A disease-specific test for diagnosis is not yet available. Neural crest tumors (ganglioneuroma, ganglioneuroblastoma) have been reported in 40% of patients. In our study, three patients diagnosed as having ROHHAD syndrome are presented from our hospital. In the evaluation of the hypothalamic functions of the patients, one of them had growth hormone deficiency and hyperprolactinemia; recurrent hypernatremia reflecting irregular water balance was detected in another. One of the patients had abnormal pupil reflex and heart rate irregularity while another had excessive sweating as autonomic dysfunction. One of the patients was diagnosed with paravertebral ganglioma accompanying ROHHAD syndrome. Non-invasive ventilation treatment was started in all patients because there was a sleep-disorder breathing clinic diagnosis. ROHHAD syndrome deserves a multidisciplinary team approach as it can affect more than one organ system. In these patients, should be sleep-disorder breathing determined early and appropriate treatment should be initiated immediately to reduce morbidity and mortality.

2017 ◽  
Vol 37 (6) ◽  
pp. 479-485
Author(s):  
C. Pavoni ◽  
E. Cretella Lombardo ◽  
R. Lione ◽  
P. Bollero ◽  
F. Ottaviani ◽  
...  

Con il termine Sleep disorder breathing (SDB) s’intendono tutte quelle difficoltà respiratorie che si verificano durante il sonno. Si può osservare una grande variabilità nella sintomatologia dei pazienti affetti da SDB, direttamente proporzionale alla resistenza che le vie aeree superiori offrono al passaggio dell’aria quando queste sono ostruite. L’SDB rappresenta un ampio ventaglio di disturbi che vanno dal russamento primario fino ad arrivare alle apnee ostruttive del sonno. I bambini con problemi respiratori tendono a compensare l’ostruzione delle vie aeree assumendo posizioni caratteristiche, tali da garantire il mantenimento della pervietà delle vie aeree durante il sonno. Un’anomalia di posizione nel sonno, durante la fase di crescita e sviluppo, si ripercuote in un’alterazione dello sviluppo occlusale e in una modifica del pattern di crescita. Le principali alterazioni sono a carico del mascellare superiore, dell’altezza facciale, del tono muscolare e della posizione mandibolare; nei bambini con SDB, infatti, è spesso presente un pattern scheletrico di Classe II, con lunghezza mandibolare ridotta ed overbite aumentato. Lo scopo del presente studio è stato quello di valutare i cambiamenti craniofacciali indotti dalla terapia funzionale di avanzamento mandibolare con particolare riferimento alla dimensione sagittale delle vie aeree, superiori ed inferiori, alla posizione dell’osso ioide e alla posizione della lingua in soggetti con SDB e malocclusione di Classe II, messi a confronto con un gruppo controllo in Classe II non trattato. 51 soggetti (24 femmine, 27 maschi; età media 9,9 ± 1,3 anni) con malocclusione dentoscheletrica di Classe II e SDB trattati con il dispositivo funzionale Monoblocco Modificato (MM) sono stati messi a confronto con un gruppo controllo non trattato di 31 soggetti (15 maschi, 16 femmine; età media 10,1 ± 1,1 anni) presentanti la stessa malocclusione senza SDB. Il gruppo di studio è stato valutato da uno specialista in otorinolaringoiatria per la definizione del tipo di respirazione ed è stato sottoposto ad un esame fisico completo. I genitori di tutti i pazienti hanno completato un questionario per valutare la presenza di sintomi notturni e diurni prima e dopo il test clinico (versione italiana in 22 punti del Pediatric sleep questionnaire, ideato da Ronald Chervin). Le teleradiografie in proiezione latero laterale sono state analizzate all’inizio e alla fine del trattamento con MM. Tutte le misurazioni cefalometriche dei due gruppi sono state analizzate attraverso dei test per la valutazione statistica dei cambiamenti avvenuti durante il trattamento. I risultati hanno evidenziato dei cambiamenti scheletrici favorevoli nel gruppo trattato a tempo T2. La terapia funzionale di avanzamento mandibolare ha indotto dei cambiamenti statisticamente significativi nella dimensione sagittale delle vie aeree, nella posizione dell’osso ioide e nella posizione della lingua in soggetti di Classe II affetti da SDB rispetto ai controlli non trattati. Dopo la terapia ortodontica in 45 pazienti del gruppo di studio è stata osservata una riduzione dei sintomi diurni di SDB. Il trattamento con apparecchiature funzionali, non solo migliora i rapporti tra mascellare superiore e mandibola, ma riduce anche il rischio del collasso delle vie aere superiori. La logica terapeutica si basa sul concetto che tutte le anomalie, legate ad un retroposizionamento mandibolare, beneficiano della terapia funzionale di avanzamento mandibolare, che è in grado di ampliare lo spazio posteriormente alla lingua ed allo stesso tempo promuovere l’avanzamento linguale. Lo spostamento anteriore della mandibola influenza la posizione dell’osso ioide e la posizione della lingua, aumentando lo spazio intermascellare in cui quest’ultima alloggia e migliorando la morfologia delle vie aeree superiori. Ne consegue sia la risoluzione della malocclusione scheletrica di Classe II che il miglioramento dei rapporti retrofaringei, eliminando quei fattori predisponenti per lo sviluppo di disturbi respiratori in età adulta.


Medicina ◽  
2021 ◽  
Vol 57 (12) ◽  
pp. 1366
Author(s):  
Haihua Huang ◽  
Mingqiu Li ◽  
Menglin Zhang ◽  
Jiang Qiu ◽  
Haiyan Cheng ◽  
...  

Background and objectives: Alzheimer’s disease is a progressive brain degeneration and is associated with a high prevalence of sleep disorders. Amyloid β peptide-42/40 (Aβ42/40) and Tau-pT181 are the core biomarkers in cerebrospinal fluid and blood. Accumulated data from studies in mouse models and humans demonstrated an aberrant elevation of these biomarkers due to sleep disturbance, especially sleep-disordered breathing (SDB). However, it is not clear if sleep quality improvement reduces the blood levels of Ab42/40 ratio and Tau-pT181 in Alzheimer’s disease patients. Materials and Methods: In this prospective study, a longitudinal analysis was conducted on 64 patients with mild–moderate cognition impairment (MCI) due to Alzheimer’s disease accompanied by SDB. Another 33 MCI cases without sleep-disordered breathing were included as the control group. Sleep quality was assessed using the Pittsburgh Sleep Quality Index (PSQI) score system. Neuropsychological assessments were conducted using the Montreal Cognitive Assessment (MoCA), Geriatric Depression Scale (GDS), Clinical Dementia Rating (CDR), 24-h Hamilton Rating Scale for Depression (HRSD-24), and Hamilton Anxiety Rating Scale (HAMA) scoring systems. Aβ42, Aβ40, and Tau-pT181 protein levels in blood specimens were measured using ELISA assays. All patients received donepezil treatment for Alzheimer’s disease. SDB was managed with continuous pressure ventilation. Results: A significant correlation was found among PSQI, HRSD-24, HAMA, Aβ42/40 ratio, and Tau-pT181 level in all cases. In addition, a very strong and negative correlation was discovered between education level and dementia onset age. Compared to patients without SDB (33 non-SD cases), patients with SDB (64 SD cases) showed a significantly lower HRSD-24 score and a higher Aβ42/40 ratio Tau-pT181 level. Sleep treatment for patients with SDB significantly improved all neuropsychological scores, Aβ42/40 ratio, and Tau-pT181 levels. However, 11 patients did not completely recover from a sleep disorder (PSQI > 5 post-treatment). In this subgroup of patients, although HAMA score and Tau-pT181 levels were significantly reduced, MoCA and HRSD-24 scores, as well as Aβ42/40 ratio, were not significantly improved. ROC analysis found that the blood Aβ42/40 ratio held the highest significance in predicting sleep disorder occurrence. Conclusions: This is the first clinical study on sleep quality improvement in Alzheimer’s disease patients. Sleep quality score was associated with patient depression and anxiety scores, as well as Aβ42/40 ratio and Tau-pT181 levels. A complete recovery is critical for fully improving all neuropsychological assessments, Aβ42/40 ratio, and Tau-pT181 levels. Blood Aβ42/40 ratio is a feasible prognostic factor for predicting sleep quality.


Author(s):  
Rogan Corbridge ◽  
Nicholas Steventon

This chapter looks at paediatric ear, nose, and throat (ENT) problems. It outlines the difficulty assessing the paediatric patient and the necessity to have a team approach to care. Approaches to airway problems, feeding difficulties, speech problems, and sleep-disordered breathing are described. Age-specific language development is tabulated.


Author(s):  
Jae Hoon Bae ◽  
Jang Su Lee ◽  
Nam Guk Kim

Background and Objectives Tonsillectomy and adenoidectomy (T&A) are effective for the treatment of pediatric sleep disorder breathing. However, in some pediatric patients, there remain unresolved snoring and mouth breathing problems after the operation. This study is aimed at evaluating the efficacy of coblation of hypertrophic posterior turbinate in combination with tonsillectomy and adenoidectomy.Subjects and Method We analyzed data from 50 children aged between 5 to 13 years old who were scheduled to undergo T&A operation from June 2018 to December in 2018. We randomly divided them into two groups. The first group consisted of 25 patients who were scheduled to perform only tonsillectomy and adenoidectomy. The second group was 21 patients who were scheduled to perform posterior turbinoplasty in combination with tonsillectomy and adenoidectomy. We evaluated preoperative and postoperative polysomnogram [Apnea-Hypopnea Index (AHI), O2 saturation], acoustic rhinometry (minimal cross section area, nasal volume), and Korean Obstructive Sleep Apnea-18 Survey (KOSA-18) score.Results After additional turbinoplasty (coblation of hypertrophic posterior turbinate), the rate of snoring and mouth breathing remaining was decreased. There were significant improvements in AHI, oxygen saturation, Visual Analog Scale and Epworth Sleepiness Scale in two groups. Symptoms (snoring and mouth breath) remaining postoperatively was much more decreased in the posterior turbinoplasty combined with T&A group than in the single T&A group in terms of KOSA-18.Conclusion When it comes to pediatric sleep disorder breathing surgery, nasal cavity evaluation is an important factor for patient’s postoperative satisfaction for sleeping and snoring. For pediatric sleep disorder breathing patients with hypertrophic posterior turbinate, who are scheduled to do tonsillectomy and adenoidectomy, an additional coblation of posterior turbinate should be considered.


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