Rosana Cardoso Alves

Periodic limb movements during sleep and restless legs syndrome in patients with ASIA A spinal cord injury

OBJECTIVE To establish the occurrence of Periodic Leg Movements (PLM) and Restless Legs Syndrome (RLS) in Spinal Cord Injury (SCI) subjects. METHODS In this study, twenty four patients were submitted to a full night polysomnography and were assessed with Epworth Sleepiness Scale and an adapted form of International Restless Legs Syndrome Scale Rating Scale (IRLS Rating Scale). Control Group (CG) was composed of 16 subjects, 50% of each sex, age: 24.38±4 years old. Spinal Cord Injury Group (SCIG) was composed of 8 subjects (29±5 years old) with a complete SCI (ASIA A) of about three and a half years of duration, 100% males. RESULTS 100% of SCIG had RLS compared to 17% in CG (p<0.0001). SCIG had 18.11±20.07 of PLM index while CG had 5.96±11.93 (p=0.01). Arousals related to PLM were recorded in CG and SCIG. There was a positive moderate correlation between RLS and age (r=0.5; p=0.01), RLS and PLM (r=0.49; p=0.01), adapted IRLS Rating Scale and PLM index (r=0.64; p=0.03) and also a negative moderate correlation between Epworth Sleepiness Scale and PLM index (r=-0.4; p=0.04) in both groups. CONCLUSION RLS and PLM are common findings in SCI patients with a complete injury.

Give children and adolescents the gift of a good night’s sleep: A call to action

Chronic sleep loss is endemic to children and adolescents throughout the world. Studies indicate that children and adolescents are not getting the sleep they need [1,2]. Additionally, research indicates that sleep disturbances are highly prevalent, with studies indicating that 10–75% of parents of young children report that their child has a sleep problem, 10% of adolescents experience insomnia, and 1–3% have diagnosable obstructive sleep apnea [2–5]. Sleep disturbances are also culturally-specific, with sleep practices and parenting definitions of sleep problems varying widely [3,6].

Sleep and neuromuscular disorders in children

Children suffering from neuromuscular diseases are at an increased risk of sleep-related breathing disorders (SRBD) such as obstructive sleep apnea syndrome (OSAS) and hypoventilation as well as central sleep apnea, which is frequent in these patients due to diaphragmatic weakness. They are at higher risk for developing complications of nocturnal hypoxemia, including pulmonary hypertension, cor pulmonale and neurocognitive dysfunction. Neuromuscular disorders and OSAS are both prevalent disorders and frequently overlap. Sleep-related hypoventilation/hypoxemia due to neuromuscular diseases may be exacerbated in the presence of OSAS; these children are likely to experience greater severity and duration of sleep-related hypoxemia than are children with either disorder alone. Additionally, some of these children have reduced central neural chemoresponsiveness. The development of SRBD in these patients further impairs their quality of life and worsens their respiratory status. We review the literature on the diagnosis and treatment of SRBD in children with a variety of neuromuscular disorders.

Sleep disorder, chorea, and dementia associated with IgLON5 antibodies

A novel syndrome characterized by a distinctive sleep disorder accompanied by variable symptoms of brainstem involvement and a highly restricted haplotype was recently described in association with antibodies to a neuronal cell adhesion protein named IgLON5. Because of the symptoms and chronic disease progression, most of these patients are primarily seen by specialists in sleep and neurodegenerative disorders. Since the initial description of this encephalopathy in 2014, only 1 additional patient has been reported.1 In order to improve clinical recognition we report a new patient who presented with the characteristic sleep dysfunction and subsequently developed chorea.

New guidelines for diagnosis and treatment of insomnia

The Brazilian Sleep Association brought together specialists in sleep medicine, in order to develop new guidelines on the diagnosis and treatment of insomnias. The following subjects were discussed: concepts, clinical and psychosocial evaluations, recommendations for polysomnography, pharmacological treatment, behavioral and cognitive therapy, comorbidities and insomnia in children. Four levels of evidence were envisaged: standard, recommended, optional and not recommended. For diagnosing of insomnia, psychosocial and polysomnographic investigation were recommended. For non-pharmacological treatment, cognitive behavioral treatment was considered to be standard, while for pharmacological treatment, zolpidem was indicated as the standard drug because of its hypnotic profile, while zopiclone, trazodone and doxepin were recommended.A Associacao Brasileira de Sono reuniu especialistas em medicina do sono com o objetivo de desenvolver novas diretrizes no diagnostico e tratamento das insonias. Nos consideramos quatro niveis de evidencia: padrao, recomendado, opcional e nao recomendado. Os topicos abordados foram: conceito, avaliacao clinica e psicossocial, indicacao da polissonografia, tratamento farmacologico, terapia comportamental cognitiva, comorbidades e insonia na infância. Para o diagnostico da insonia, foi recomendada uma avaliacao psicossocial e a realizacao da polissonografia, enquanto que no que se refere ao tratamento, foi estabelecido como padrao a indicacao da terapia comportamental cognitiva, e, quanto ao tratamento farmacologico, foi indicado o uso do zolpidem como hipnotico padrao, e sendo recomendado o zopiclone, a trazodona e a doxepina.

Jactatio capitis nocturna with persistence in adulthood: case report

Rhythmic movement disorder, also known as jactatio capitis nocturna, is an infancy and childhood sleep-related disorder characterized by repetitive movements occurring immediately prior to sleep onset and sustained into light sleep. We report a 19-year-old man with a history of headbanging and repetitive bodyrocking since infancy, occurring on a daily basis at sleep onset. He was born a premature baby but psychomotor milestones were unremarkable. Physical and neurological diagnostic workups were unremarkable. A hospital-based sleep study showed: total sleep time: 178 min; sleep efficiency index 35.8; sleep latency 65 min; REM latency 189 min. There were no respiratory events and head movements occurred at 4/min during wakefulness, stages 1 and 2 NREM sleep. No tonic or phasic electromyographic abnormalities were recorded during REM sleep. A clinical diagnosis of rhythmic movement disorder was performed on the basis of the clinical and sleep studies data. Clonazepam (0.5 mg/day) and midazolam (15 mg/day) yielded no clinical improvement. Imipramine (10 mg/day) produced good clinical outcome. In summary, we report a RMD case with atypical clinical and therapeutical features.

Wilson's disease with and without rapid eye movement sleep behavior disorder compared to healthy matched controls

OBJECTIVE Quantitative data are reported on rapid eye movement (REM) sleep behavior disorder (RBD) in a cohort of predominantly neurological Wilsons disease (WD). METHODS A total of 41 patients with WD and 41 healthy, age- and gender-matched controls were studied by conducting face-to-face interviews, neurological and clinical examinations, laboratory tests, and WD- and RBD-specific scales. Video-polysomnography and quantification of REM sleep without atonia (RWA) were conducted in 35 patients and 41 controls. RESULTS Patients with WD showed significantly worse sleep quality, less sleep efficiency, increased wakefulness after sleep onset, and more arousals compared to healthy controls. Five patients with WD (four women) fulfilled the diagnostic criteria for RBD with significantly higher values in RWA, RBD Questionnaire-Hong Kong, and RBD Screening Questionnaire compared to patients with WD without RBD. In three patients with WD, RBD had manifested before any other symptom that could be attributed to WD. Percentage of RWA was significantly lower in WD without RBD than in WD with RBD, but still significantly increased compared to controls. CONCLUSIONS RBD can be comorbid with WD. RWA is commonly present in WD, both in the presence or absence of clinical RBD. A causal connection is possible, though retrospective determination of RBD onset and the low number of patients do not allow a definitive conclusion at this point. However, screening for WD in idiopathic RBD is available at low cost and is recommended. Early-stage copper chelation therapy provides a highly effective treatment to prevent further WD manifestations and might also control the comorbid RBD.

Spinal cord injury as a trigger to develop periodic leg movements during sleep: an evolutionary perspective

The primary trigger to periodic limb movement (PLM) during sleep is still unknown. Its association with the restless legs syndrome (RLS) is established in humans and was reported in spinal cord injury (SCI) patients classified by the American Spinal Injury Association (ASIA) as A. Its pathogenesis has not been completely unraveled, though recent advances might enhance our knowledge about those malfunctions. PLM association with central pattern generator (CPG) is one of the possible pathologic mechanisms involved. This article reviewed the advances in PLM and RLS genetics, the evolution of CPG functioning, and the neurotransmitters involved in CPG, PLM and RLS. We have proposed that SCI might be a trigger to develop PLM.

Diretrizes brasileiras para o tratamento da narcolepsia

This manuscript contains the conclusion of the consensus meeting of the Brazilian Sleep Association with Brazilian sleep specialists on the treatment of narcolepsy based on the review of medical literature from 1980 to 2010. The manuscript objectives were to reinforce the use of agents evaluated in randomized placebo-controlled trials and to issue consensus opinions on the use of other available medications as well as to inform about safety and adverse effects of these medications. Management of narcolepsy relies on several classes of drugs, namely, stimulants for excessive sleepiness, antidepressants for cataplexy and hypnotics for disturbed nocturnal sleep. Behavioral measures are likewise valuable and universally recommended. All therapeutic trials were analyzed according to their class of evidence. Recommendations concerning the treatment of each single symptom of narcolepsy as well as general recommendations were made. Modafinil is the first-line pharmacological treatment of excessive sleepiness. Second-line choices for the treatment of excessive sleepiness are slow-release metylphenidate followed by mazindol. The first-line treatments of cataplexy are the antidepressants, reboxetine, clomipramine, venlafaxine, desvenlafaxine or high doses of selective serotonin reuptake inibitors antidepressants. As for disturbed nocturnal sleep the best option is still hypnotics. Antidepressants and hypnotics are used to treat hypnagogic hallucinations and sleep paralysis.

Sleep in infants with congenital heart disease

OBJECTIVES: To investigate hypoxia and sleep disordered breathing in infants with congenital heart disease. METHODS: Prospective study. In-hospital full polysomnography was performed on 14 infants with congenital heart disease, age 7 ±1 months, and in 7 normal infants, age 10 ±2 months. Congenital heart disease infants were classified as acyanotic (n=7) or cyanotic (n=7). RESULTS: Nutritional status, assessed by the Gomez classification and expressed as % weight for age, was 70 ±7, 59 ±11 and 94 ±16 in the acyanotic, cyanotic congenital heart disease and control infants, respectively (p<0.001). The respiratory disturbance index (AHI, events per hour) was [median (25–75%)]: 2.5 (1.0–3.4), 2.4 (1.5–3.1) and 0.7 (0.7–0.9) in acyanotic, cyanotic CHD infants and controls, respectively (p=0.013). Almost all congenital heart disease infants (11 out of 14) and only one control infant had an AHI >1 event/hour. The minimum oxygen saturation was 79% (74–82), 73% (57–74) and 90% (90–91) in the acyanotic, cyanotic congenital heart disease infants and controls, respectively (p <0.001). The arousal index (events/hour) was similar among the three groups at 8.4 ±2.4, 10.3 ±8.7 and 6.5 ±3, respectively (p=0.451). CONCLUSIONS: Infants with congenital heart disease frequently present with sleep-disordered breathing associated with oxygen desaturations but not arousals. Therefore, sleep may represent a significant burden to infants with congenital heart disease.