Feasibility of a standardized protocol for respiratory training with intermitted positive pressure breathing ventilator application in dysphonia and dysarthria.

BACKGROUND: Brain damage can affect several functions related to speech production leading to dysphonia and dysarthria. Most rehabilitation treatments focus on articulation training rather than on pneumophonic coordination and respiratory muscle strength. Respiratory training using an intermitted positive pressure breathing (IPPB) ventilator can be used for this last purpose; no agreement on a standard protocol has been reached to date. AIM: To evaluate the feasibility and the effectiveness of a standardized incremental protocol of respiratory training using IPPB to treat dysphonia and dysarthria. DESIGN: Case series study. SETTING: Neuropsychological Rehabilitation Unit in an Italian Neurorehabilitation Division. POPULATION: Thirty-two subjects with dysphonia and dysarthria resulting from neurological lesion. METHODS: Participants were assessed using clinical evaluation scales (GIRBAS scale of dysphonia, Robertson dysarthria profile), respiratory function test, and arterial blood gas analysis in air. The evaluations were performed at baseline and after 20 sessions of respiratory training with IPPB. The protocol provided a default increment of ventilator parameters. All subjects also underwent a standard speech and language therapy treatment. A satisfaction survey to assess acceptability and the Goal Attainment Scale were applied. RESULTS: All participants fulfilled the protocol. No complications or discomfort were reported. Subjects' satisfaction at survey was 97.7%. After respiratory training, all respiratory function parameters increased, but only maximal voluntary ventilation (MVV), maximum inspiratory pressure (MIP), and maximum expiratory pressure (MEP) were statistically significant (P<0.05). Clinical evaluation scales significantly improved (P<0.05). Correlation between respiratory function parameters and clinical evaluation scales showed a moderate correlation between MVV, MEP, MIP, and Robertson dysarthria profile (P<0.01). A weak correlation was found between MIP, MVV, and GIRBAS scale (P<0.05). CONCLUSIONS: Our protocol showed to be practical and well-tolerated. After respiratory training, MVV, MIP and MEP improved in significantly. Clinical scale scores improved in all participants. CLINICAL REHABILITATION IMPACT: Respiratory training using IPPB ventilator can be useful in implementing speech and language treatments in subjects with dysphonia and dysarthria linked to brain injury.

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1.

Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-of-function mutations in the same channel cause the short QT3 syndrome. Recently, a missense mutation in Kir2.1, as well as mutations in the Kir4.1, were reported to be involved in autism spectrum disorders (ASDs) suggesting a role of potassium channels in these diseases and introducing the idea of the existence of K+ channel ASDs. Here, we report the identification in an Italian affected family of a novel missense mutation (p.Phe58Ser) in the KCNJ2 gene detected in heterozygosity in a proband affected by autism and borderline for short QT syndrome type 3. The mutation is located in the N-terminal region of the gene coding for the Kir2.1 channel and in particular in a very conserved domain. In vitro assays demonstrated that this mutation results in an increase of the channel conductance and in its open probability. This gain-of-function of the protein is consistent with the autistic phenotype, which is normally associated to an altered neuronal excitability.

Risk factors for fatal and nonfatal repetition of suicide attempts: a literature review.

OBJECTIVES: This review aimed to identify the evidence for predictors of repetition of suicide attempts, and more specifically for subsequent completed suicide. METHODS: We conducted a literature search of PubMed and Embase between January 1, 1991 and December 31, 2009, and we excluded studies investigating only special populations (eg, male and female only, children and adolescents, elderly, a specific psychiatric disorder) and studies with sample size fewer than 50 patients. RESULTS: The strongest predictor of a repeated attempt is a previous attempt, followed by being a victim of sexual abuse, poor global functioning, having a psychiatric disorder, being on psychiatric treatment, depression, anxiety, and alcohol abuse or dependence. For other variables examined (Caucasian ethnicity, having a criminal record, having any mood disorders, bad family environment, and impulsivity) there are indications for a putative correlation as well. For completed suicide, the strongest predictors are older age, suicide ideation, and history of suicide attempt. Living alone, male sex, and alcohol abuse are weakly predictive with a positive correlation (but sustained by very scarce data) for poor impulsivity and a somatic diagnosis. CONCLUSION: It is difficult to find predictors for repetition of nonfatal suicide attempts, and even more difficult to identify predictors of completed suicide. Suicide ideation and alcohol or substance abuse/dependence, which are, along with depression, the most consistent predictors for initial nonfatal attempt and suicide, are not consistently reported to be very strong predictors for nonfatal repetition.