Upper airway resistance syndrome

This article reviews the clinical picture, diagnosis and management of the upper airway resistance syndrome (UARS). Presently, there is not enough data on key points like the frequency of UARS and the morbidity associated with this condition. Furthermore, the existence of LIARS as an independent sleep disorder and its relation with snoring and obstructive events is in debate. The diagnosis of UARS is still a controversial issue. The technical limitations of the classic approach to monitor airflow with thermistors and inductance plethysmography, as well as the lack of a precise definition of hypopnea, may have led to a misinterpretation of UARS as an independent diagnosis from the sleep apnea/hypopnea syndrome. The diagnosis of this syndrome can be missed using a conventional polysomnographic setting unless appropriate techniques are applied. The use of an esophageal balloon to monitor inspiratory effort is currently the gold standard. However, other sensitive methods such as the use of a pneumotachograph and, more recently, nasal cannula/pressure transducer systems or on-line monitoring of respiratory impedance with the forced oscillation technique may provide other interesting possibilities. Recognition and characterization of this subgroup of patients within sleep breathing disorders is important because they are symptomatic and may benefit from treatment. Management options to treat UARS comprise all those currently available for sleep apnea/hypopnea syndrome (SAHS). However, the subset of patients classically identified as LIARS that exhibit skeletal craneo-facial abnormalities might possibly obtain further benefit from maxillofacial surgery.     

The XYY syndrome in children: A review

The XYY sex chromosome complement in males was first described in 1961. A range of associated characteristics were subsequently noted. These included intellectual deficiencies, genital abnormalities, extreme tallness, and aggressiveness. Most of the studies and all of the review articles have concentrated on adults. This paper describes the XYY syndrome in children by reviewing the available literature and citing two new cases. It concludes that for children, there are no proven phenotypic expressions associated with the XYY sex chromosome complement. Clinically it is recommended that for the time being, parents and patients not be informed of this finding.     

A clinical investigation of obstructive sleep apnea syndrome (OSAS) and upper airway resistance syndrome (UARS) patients

Objective: (i) Evaluation of the clinical differences and similarities presented by patients diagnosed as OSAS and UARS subjects. (ii) Evaluation of the ability of a sleep disorders specialist to dissociate the two syndromes based upon clinical evaluation.Population: 314 subjects were included. They were referred to a sleep disorders clinic with complaints of loud snoring during a 3 month period.Method: The evaluation consisted of: (i) Clinical interview and evaluation. (ii) Administration of validated questionnaires (Sleep Disorders Questionnaire and Epworth Sleepiness Scale). (iii) Establishment of clinical diagnostic and results of polygraphic recording.Results: After clinical evaluation and polygraphic recordings (performed within 3 weeks of initial evaluation) patients were subdivided into two groups: 176 OSAS and 128 UARS. The misclassification of patients by specialists correlated with body mass index (BMI) measurement, with an over classification of patient as OSAS when a high BMI was noted and vice-versa for UARS. The only significant difference between OSAS and UARS patients was an older age and a wider neck circumference in the OSAS group than in UARS patients.Conclusion: Clinical presentation including daytime sleepiness complaint and ESS score is similar for patients with and without drop of oxygen saturation below 90% during sleep. There was always a male predominance within both syndromes, but more women were diagnosed with UARS than with OSAS.     

Stress and airway resistance in children with asthma

OBJECTIVE: The present study implements an experimental paradigm to examine airway reactivity to stress in children with asthma and controls. METHOD: 114 children with asthma and 30 controls (ages 9-15) participated. The protocol involved 5 min of baseline physiological measurements followed by a 5-min stressful task. Skin conductance (EDG), skin temperature, and heart rate were measured continuously. Airway resistance was measured at baseline and after the task. RESULTS: 110 children (76% of the sample) were significantly "stressed" as shown by physiological changes. Asthmatics and controls differed on overall airway resistance, F(1, 108)=12.3, P<.001. The entire sample demonstrated a trend toward increased airway resistance in response to stress, F(1,108)=3.1, P<. 08. A portion of asthmatics (22%) had increases of greater than 20% of baseline airway resistance. Changes in airway resistance in response to stress were unrelated to asthma severity, F(2,78)=2.0, ns. CONCLUSION: Children with asthma and controls demonstrate variation in airway function in response to stress, although increases are likely more meaningful for children with asthma. Further research is needed to examine the mechanisms underlying this response.     

Clinical characteristics of upper airway resistance syndrome

Polysomnographic findings and clinical symptoms were investigated in 14 cases of upper airway resistance syndrome. The mean scores of the Epworth sleepiness scale and self-rating depression scale in eight cases were 13.5 and 38.6, respectively. The mean sleep latency of the multiple sleep latency test in four cases was 10.2 min. Seven cases were treated with continuous positive airway pressure (CPAP), and one with hormone replacement therapy. The most common symptom was daytime sleepiness. Five cases had hypertension. CPAP reduced increasing negative esophageal pressure (Pes) and frequency of EEG arousals, and improved hypertension in one case. Hormone replacement therapy ameliorated increasing negative Pes and clinical symptoms.     

A review of Klinefelter's syndrome in children and adolescents

Klinefelter's syndrome (XXY syndrome) has been defined as the spectrum of phenotypic features resulting from a sex chromosome complement that includes two or more X chromosomes and one or more Y chromosomes. Cytogenetic surveys conducted across the world have identified a sizable population of XXY males, who have been studied extensively from the newborn period through adolescence. The longitudinal studies of these boys have produced an accurate and reliable account of the growth and development of the XXY male. There now exists a growing body of knowledge that suggests that XXY boys often experience language deficits, neuromaturational lag, academic difficulties, and psychological distress, which may be reduced or ameliorated by early identification, anticipatory guidance, and proper medical management.     

Differences in clinical features of upper airway resistance syndrome, primary snoring, and obstructive sleep apnea/hypopnea syndrome

BACKGROUND: The clinical features of patients with upper airway resistance syndrome (UARS) have previously been compared to patients with obstructive sleep apnea/hypopnea syndrome (OSAHS). No data regarding differences between patients with primary snoring (PS) or patients with obstructive sleep apnea/hypopnea without daytime sleepiness (OSAH) are available. We conducted a study to investigate clinical features of UARS, comparing them to those in patients with PS, OSAH, and OSAHS. METHODS: Retrospective chart analysis of 157 patients with PS, 424 patients with UARS, 562 patients with OSAH, and 1610 patients with OSAHS seen in two sleep disorders clinics between 1996 and 2006. All patients had a diagnostic polysomnography (PSG) and a comprehensive clinical history taken by board-certified sleep specialists. RESULTS: PS and UARS patients were significantly younger, less overweight and had lower weight gain during the past 5years. The female-to-male ratio was highest in the UARS group. UARS patients had significantly less stage non-rapid eye movement sleep (NREM) 1 and NREM 2 and significantly more NREM 3 and NREM 4 sleep than OSAH and OSAHS patients. Arousal indices between PS/UARS and OSAH/OSAHS patients were significantly lower, with no significant difference within these diagnostic categories. Patients with UARS presented the highest degree of subjective impairment. CONCLUSIONS: UARS patients share some clinical features of patients with OSAHS and PS, although these two groups differ in their presentation of clinical sleepiness. Patients with UARS were most impaired in terms of their daily functioning and perception of sleep quality. This finding could not be corroborated by objective measures.     

SSRI-induced apathy syndrome: a clinical review

The authors review the literature pertaining to selective serotonin reuptake inhibitor (SSRI)-induced apathy syndrome. A literature search of Medline and International Pharmaceutical Abstracts from 1970 to the present was performed for relevant articles. Twelve relevant case reports and one open-label treatment trial were identified. An amotivational, or apathy, syndrome has been reported in a number of patients receiving SSRI treatment over the last decade. This adverse effect has been noted to be dose-dependent and reversible, but is often unrecognized. This phenomenon has caused significant negative consequences for adults as well as social and academic difficulties in adolescents.     

Klippel-Feil syndrome in children: clinical features and management

A retrospective analysis of 11 children with the diagnosis of Klippel-Feil syndrome treated at the University of Minnesota Hospital over a period of 20 years is presented. The salient features of the syndrome and its associated anomalies are reviewed. Emphasis is placed on its neurological aspects, particularly the potential risks of injury to the craniocervical junction and cervical spine. Guidelines for the management of these patients are suggested.     

Asperger's syndrome: a review of clinical features

The term Asperger's Syndrome (AS) refers to a clinical picture characterized by social isolation in combination with odd and eccentric behaviour. While the syndrome has been recognized for some time, diagnostic criteria for the disorder have not yet been established or evaluated. The objective of this paper is to describe some of the clinical features of AS. Twenty-eight children and adolescents with AS were compared to a group of psychiatric outpatients (matched on age and sex) who were also socially impaired. The AS subjects showed a range of social impairments essentially different than those seen in the control group. The sex ratio, family history, and presence of neurologic disease in some AS cases, suggest that the etiology of the disorder is similar to that in autism. The methodological limitations of the study are discussed, and a revised set of diagnostic criteria are proposed for AS.     

Upper airway imaging in sleep-disordered breathing

Our understanding of sleep-disordered breathing has evolved considerably over the past three decades, and clinical techniques of evaluation have progressed tremendously. Myriad imaging techniques are now available for the physician to approach the dynamic features resulting in turbulent airflow, upper airway narrowing or collapse at different levels. Controversy exists in the choice of investigations, probably because the best evaluation should be a combination of different techniques. Physical, radiographic, endoscopic and acoustic evaluations could be integrated to understand the degree and the levels of airway reduction and/or obstruction in a given patient. This review focuses on cost-effective and easily implemented techniques in daily practice, allowing quality assessment of the dynamic anatomy of sleep-disordered breathing: cephalometry, (sleep-)endoscopy and acoustic reflectometry of the upper airway.     

Isaacs syndrome: A review

Isaacs syndrome is a peripheral nerve hyperexcitability (PNH) syndrome that presents as continuous motor activity. Clinical findings include cramps, fasciculations, and myokymia. Electrodiagnosis plays a key role in diagnosis by demonstrating after‐discharges on nerve conduction studies, and fasciculation potentials, myokymic discharges, neuromyotonic discharges, and other types of abnormal spontaneous activity on needle examination. Etiopathogenesis involves the interaction of genetic, autoimmune, and paraneoplastic factors, which requires a broad‐ranging evaluation for underlying causes. Initial treatment is symptomatic, but immune therapy is often needed and can be effective. The purpose of this review is to describe the syndrome and its pathogenesis, assist the reader in evaluating patients with suspected Isaacs syndrome and distinguishing it from other disorders of PNH, and suggest an approach to management, including both symptomatic and immunomodulating therapy. Muscle Nerve 52 : 5–12, 2015     

Upper motor neuron and extra-motor neuron involvement in amyotrophic lateral sclerosis: A clinical and brain imaging review

There is an ongoing discussion whether ALS is primarily a disease of upper motor neurons or lower motor neurons. We undertook a review to assess how new insights have contributed to solve this controversy. For this purpose we selected relevant publications from 1995 onwards focussing on (1) primary targets and disease progression in ALS and variants of ALS, (2) brain imaging markers for upper motor neuron lesion, and (3) evidence for ALS being a multisystem disorder. Clinically, upper motor and lower motor neuron symptoms can occur in any order over time. Brain imaging markers show upper motor neuron involvement in early disease. Overlap syndromes of ALS and dementia, and involvement of autonomic and sensory nerves occur frequently. PET/SPECT scans, functional MRI and voxel based morphometry studies clearly show abnormalities in extra-motor areas of the brain. Pathologically, the 43 kDa TAR DNA-binding protein (TDP-43) provides a clue to these overlapping disorders. In conclusion, evidence accumulates that ALS is a multisystem disorder rather than a pure lower and/or upper motor neuron disorder.     

Reading skills in children with Down syndrome: a meta-analytic review

The authors examine the reading profile in children with Down syndrome by comparing the nonword decoding skills in children with Down syndrome and typically developing children matched for word recognition level. Journal articles published before 04.05.2010 were identified by using the keyword Down* cross-referenced to ‘reading’, ‘literacy’, ‘decoding’, and ‘reading comprehension’ were selected. A total of eight papers met the criteria for inclusion. Each study was reviewed and coded on both inclusion criteria and coding protocol before the analysis was performed. Children with Down syndrome had equivalent nonword decoding skills to typically developing children matched for word recognition level, but showed deficits on measures of two important underlying skills, vocabulary and phonological awareness. Differences in vocabulary, but not phonological awareness, were predictive of differences in nonword decoding skills. The practical and theoretical implications of these findings are discussed.     

The Landau-Kleffner syndrome: A review

The Landau-Kleffner syndrome or the syndrome of acquired epileptic aphasia was first described in 1957. The disorder is characterised by gradual or rapid loss of language in a previously normal child. All children have abnormal EEG compatible with the diagnosis of epilepsy, however, only 70% have clinical seizures. The present article presents a review of the current knowledge concerning this disorder. Information is provided related to the clinical picture, etiology, pathogenesis, treatment and outcome.

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Zusammenfassung Das Landau-Kleffner-Syndrom oder das Syndrom der erworbenen epileptischen Aphasie wurde erstmals 1957 beschrieben. Die Störung ist charakterisiert durch den allmählichen oder raschen Verlust der Sprache eines zuvor normal entwickelten Kindes. Alle Kinder haben abnorme EEG-Befunde, die mit der Diagnose einer Epilepsie vereinbar sind. Jedoch haben lediglich 70% der Betroffenen klinisch apparente Krampfanfälle. Der vorliegende Artikel faßt den gegenwärtigen Wissensstand zu dieser Störung zusammen. Es werden Informationen zum klinischen Bild, zur Ätiologie, Pathogenese, Behandlung und Verlauf vermittelt.

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Résumé Le syndrome Landau-Kleffner, ou bien le syndrome de l'aphasie épileptique acquise, a été découvert en 1957. Ce dysfonctionnement se charactérise par la perte graduelle ou rapide du langage chez un enfant jusque là normal. Tous les enfants présentent des électro-encéphalogrammes anormaux correspondant à des critères diagnostiques de l'épilepsie, mais 70% d'entre eux seulement ont des attaques cliniques. Cet article présente un survol des connaissances actuelles relatives à ce dysfonctionnement, et se propose de donner des informations quant à son aspect clinique, son étiologie, sa pathogénie, son traitement ainsi que son issue.