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Related Articles |
[The analysis of correlative factors on mental health of post-linguistic hearing loss adults].
Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015 Sep;29(18):1598-602
Authors: Qi B, Li X, Gao W, Liu B
Abstract
OBJECTIVE: To evaluate the mental health level of the post-linguistic deafen adult, to analyze factors affecting the mental health level.
METHOD: Fifty-two adult patients with severe to extremely severe post-linguistic hearing loss were randomly selected to participate the study. A self-reporting questionnaire drew up by researchers was used to collect sociological data of the participants. The self-rating anxiety scale (SAS), self-rating depression scale (SDS) and personal report of communication apprehension (PRCA-24) were used to measure the mental health degree of 52 post-linguistic hearing loss adults. To analyze related factors affecting the mental health in post-linguistic deafen adult.
RESULT: (1) Majority of post-linguistic deafen adult have mental symptoms, including 24 subjects (46.15%) with anxiety feeling, 18 subjects (34.61%) with depression feeling and 45 subjects (86.54%) with communication apprehension. (2) Gander, with/without tinnitus, duration of hearing loss, education background and family support had significant correlation with the mental health level of subjects. Higher incident rate of mental symptoms were found in male (OR = 2.246), with tinnitus (OR = 0.536), short duration (OR = 1.397, 1.530), high education background (OR = 0.323) and poor family support (OR = 1.724).
CONCLUSION: The mental health of the post-linguistic deafen adult was worse than that of the normal people, pathological feature and sociological factors were significantly correlated to the psychological evaluation. It is very important to pay attention on mental health and to give effective counseling of hearing loss people.
PMID: 26790256 [PubMed - in process]
Related Articles |
The genotypic and phenotypic spectrum of PIGA deficiency.
Orphanet J Rare Dis. 2015;10:23
Authors: Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD
Abstract
BACKGROUND: Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Until recently, only somatic PIGA mutations had been reported in patients with paroxysmal nocturnal hemoglobinuria (PNH), while germline mutations had not been observed, and were suspected to result in lethality. However, in just two years, whole exome sequencing (WES) analyses have identified germline PIGA mutations in male patients with XLIDD (X-linked intellectual developmental disorder) with a wide spectrum of clinical presentations.
METHODS AND RESULTS: Here, we report on a new missense PIGA germline mutation [g.15342986C>T (p.S330N)] identified via WES followed by Sanger sequencing, in a Chinese male infant presenting with developmental arrest, infantile spasms, a pattern of lesion distribution on brain MRI resembling that typical of maple syrup urine disease, contractures, dysmorphism, elevated alkaline phosphatase, mixed hearing loss (a combination of conductive and sensorineural), liver dysfunction, mitochondrial complex I and V deficiency, and therapy-responsive dyslipidemia with confirmed lipoprotein lipase deficiency. X-inactivation studies showed skewing in the clinically unaffected carrier mother, and CD109 surface expression in patient fibroblasts was 57% of that measured in controls; together these data support pathogenicity of this mutation. Furthermore, we review all reported germline PIGA mutations (1 nonsense, 1 frameshift, 1 in-frame deletion, five missense) in 8 unrelated families.
CONCLUSIONS: Our case further delineates the heterogeneous phenotype of this condition for which we propose the term 'PIGA deficiency'. While the phenotypic spectrum is wide, it could be classified into two types (severe and less severe) with shared hallmarks of infantile spasms with hypsarrhythmia on EEG and profound XLIDD. In severe PIGA deficiency, as described in our patient, patients also present with dysmorphic facial features, multiple CNS abnormalities, such as thin corpus callosum and delayed myelination, as well as hypotonia and elevated alkaline phosphatase along with liver, renal, and cardiac involvement; its course is often fatal. The less severe form of PIGA deficiency does not involve facial dysmorphism and multiple CNS abnormalities; instead, patients present with milder IDD, treatable seizures and generally a longer lifespan.
PMID: 25885527 [PubMed - indexed for MEDLINE]