ERS technical standards for using type III devices (limited channel studies) in the diagnosis of sleep disordered breathing in adults and children.

For more than three decades, type III devices have been used in the diagnosis of sleep disordered breathing in supervised as well as unsupervised settings. They have satisfactory positive and negative predictive values for detecting obstructive and central sleep apnoea in populations with moderately high pre-test probability of symptoms associated with these events. However, standardisation of commercially available type III devices has never been undertaken and the technical specifications can vary widely. None have been subjected to the same rigorous processes as most other diagnostic modalities in the medical field. Although type III devices do not include acquisition of electroencephalographic signals overnight, the minimum number of physical sensors required to allow for respiratory event scoring using standards outlined by the American Academy of Sleep Medicine remains debatable. This technical standard summarises data on type III studies published since 2007 from multiple perspectives in both adult and paediatric sleep practice. Most importantly, it aims to provide a framework for considering current type III device limitations in the diagnosis of sleep disordered breathing while raising research- and practice-related questions aimed at improving our use of these devices in the present and future.

Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.

Kohlschütter-Tönz syndrome (KTS) is a rare, autosomal recessive syndrome characterized by a triad of epilepsy, amelogenesis imperfecta and severe global developmental delay. It was first described in a Swiss family in 1974 by Alfried Kohlschütter and Otmar Tönz. It is caused by pathogenic variants in the ROGDI gene. To the best of our knowledge, there are currently 43 patients with a confirmed ROGDI gene pathogenic variant reported. Here, we review in detail the clinical manifestations of KTS, provide an overview of all reported genetically confirmed patients, and document an additional case of KTS-a 6-year-old Latvian girl-with a confirmed ROGDI gene pathogenic variant. In contrast to previous reports, we detected idiopathic bilateral nephrocalcinosis in this newly identified KTS patient. Perampanel proved an effective treatment for our patient with prolonged super-refractory status epilepticus. In order to better characterize this rare syndrome and its clinical course, it is important to report any additional symptoms and also the effectiveness of used therapies. Future research should focus on elucidating the mechanisms by which the absence/insufficiency of ROGDI-encoded protein causes the clinical manifestations of KTS. This knowledge could shape possible ways of influencing the disease's natural history with more effective therapies.

Utility of the pictorial Epworth sleepiness scale in the adult down syndrome population.

OBJECTIVE/BACKGROUND: The utility of the pictorial Epworth sleepiness scale (pESS) has been assessed by only a few studies in a clinical population. Some of its questions may be inappropriate in certain patient groups. The aim of this study was to assess the utility of the pESS in the adult Down syndrome (DS) population in the United Kingdom (UK). PATIENTS/METHODS: A modified sleep questionnaire including the pESS was administered to 5430 adults with DS living in the UK. Standard statistical analysis was undertaken. RESULTS: Of 1105 valid responses (20.35%), the pESS was incomplete in 129 (11.67%) cases. Of the incomplete responses, "Q1. Likelihood of dozing/falling sleep while sitting and reading?" was most frequently missed (63.6% of 129 responses). CONCLUSIONS: The pESS may not be entirely appropriate in certain populations such as those with intellectual disability where literacy levels may be low. Question modification may be necessary. CLINICAL TRIAL REGISTRATION NUMBER: ISRCTN55685305.

Stridor in children.

Several conditions that manifest as stridor can mimic asthma. When there is an initial failure in therapy, other diagnoses should be considered. The absence of witnessed choking does not exclude an inhaled/ingested foreign body. http://ow.ly/bqRD30kJcgI.