- Hallucinations in borderline personality disorder: Prevalence, characteristics and associations with comorbid symptoms and disorders. [Journal Article]
- SRSci Rep 2017 Oct 24; 7(1):13920
- To establish the point prevalence of hallucinations in borderline personality disorder (BPD), telephone interviews were conducted with 324 outpatients diagnosed with BPD. Then a subgroup (n = 98) was...
To establish the point prevalence of hallucinations in borderline personality disorder (BPD), telephone interviews were conducted with 324 outpatients diagnosed with BPD. Then a subgroup (n = 98) was interviewed in person to investigate the co-occurrence of these phenomena with other psychotic symptoms, comorbid psychiatric disorders, prior childhood adversities, and adult life stressors. For hallucinations in general a point prevalence of 43% was found, with rates for hallucinations in separate sensory modalities ranging from 8-21%. Auditory verbal hallucinations consisted mostly of verbal abuse and were generally experienced as distressing. A significant association was found between the severity of hallucinations on the one hand, and delusions and unusual thought content on the other; this association was absent for negative symptoms and disorganization. The presence of hallucinations also correlated with the number of comorbid psychiatric disorders, and with posttraumatic stress disorder (PTSD) specifically. Childhood emotional abuse and adult life stressors were also associated with hallucinations. The latter three associations suggest that patients with BPD might have an etiological mechanism in common with other patient/nonpatient groups who experience hallucinations. Based on these findings, we advise to treat PTSD and hallucinations when found to be present in patients with BPD.
- Identifying Otosclerosis with Aural Acoustical Tests of Absorbance, Group Delay, Acoustic Reflex Threshold, and Otoacoustic Emissions. [Journal Article]
- JAJ Am Acad Audiol 2017; 28(9):838-860
- CONCLUSIONS: Reflectance provides a middle-ear test that is sensitive to classifying ears as otosclerotic or normal, which may be useful in clinical applications.
- Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. [Journal Article]
- BBrain 2017 Oct 01; 140(10):2550-2556
- Hypomyelinating leukodystrophies are genetically heterogeneous disorders with overlapping clinical and neuroimaging features reflecting variable abnormalities in myelin formation. We report on the id...
Hypomyelinating leukodystrophies are genetically heterogeneous disorders with overlapping clinical and neuroimaging features reflecting variable abnormalities in myelin formation. We report on the identification of biallelic inactivating mutations in NKX6-2, a gene encoding a transcription factor regulating multiple developmental processes with a main role in oligodendrocyte differentiation and regulation of myelin-specific gene expression, as the cause underlying a previously unrecognized severe variant of hypomyelinating leukodystrophy. Five affected subjects (three unrelated families) were documented to share biallelic inactivating mutations affecting the NKX6-2 homeobox domain. A trio-based whole exome sequencing analysis in the first family detected a homozygous frameshift change [c.606delinsTA; p.(Lys202Asnfs*?)]. In the second family, homozygosity mapping coupled to whole exome sequencing identified a homozygous nucleotide substitution (c.565G>T) introducing a premature stop codon (p.Glu189*). In the third family, whole exome sequencing established compound heterozygosity for a non-conservative missense change affecting a key residue participating in DNA binding (c.599G>A; p.Arg200Gln) and a nonsense substitution (c.589C>T; p.Gln197*), in both affected siblings. The clinical presentation was homogeneous, with four subjects having severe motor delays, nystagmus and absent head control, and one individual showing gross motor delay at the age of 6 months. All exhibited neuroimaging that was consistent with hypomyelination. These findings define a novel, severe form of leukodystrophy caused by impaired NKX6-2 function.
- A pediatric case with peripheral facial nerve palsy caused by a granulomatous lesion associated with cat scratch disease. [Journal Article]
- BDBrain Dev 2018; 40(2):159-162
- CONCLUSIONS: The suspected granulomatous lesion was considered to have resulted from the host's immune reaction to Bartonella infection and impaired the facial nerve. This is the first case report providing direct evidence of peripheral facial nerve palsy caused by a suspected granulomatous lesion associated with cat scratch disease and its treatment course.
- Longitudinal Changes in Electrically Evoked Auditory Event-Related Potentials in Children With Auditory Brainstem Implants: Preliminary Results Recorded Over 3 Years. [Journal Article]
- EHEar Hear 2018 Mar/Apr; 39(2):318-325
- CONCLUSIONS: eERP responses in children with ABIs could change over a long period of time. Maturation of the central auditory system could not fully account for these observed changes. Children with ABIs need to be closely monitored for potential changes in auditory perception and unfavorable nonauditory sensations. Neuroimaging correlates are needed to better understand the emergence of nonauditory stimulation over time in these children.
- How Auditory Experience Differentially Influences the Function of Left and Right Superior Temporal Cortices. [Journal Article]
- JNJ Neurosci 2017 Sep 27; 37(39):9564-9573
- To investigate how hearing status, sign language experience, and task demands influence functional responses in the human superior temporal cortices (STC) we collected fMRI data from deaf and hearing...
To investigate how hearing status, sign language experience, and task demands influence functional responses in the human superior temporal cortices (STC) we collected fMRI data from deaf and hearing participants (male and female), who either acquired sign language early or late in life. Our stimuli in all tasks were pictures of objects. We varied the linguistic and visuospatial processing demands in three different tasks that involved decisions about (1) the sublexical (phonological) structure of the British Sign Language (BSL) signs for the objects, (2) the semantic category of the objects, and (3) the physical features of the objects.Neuroimaging data revealed that in participants who were deaf from birth, STC showed increased activation during visual processing tasks. Importantly, this differed across hemispheres. Right STC was consistently activated regardless of the task whereas left STC was sensitive to task demands. Significant activation was detected in the left STC only for the BSL phonological task. This task, we argue, placed greater demands on visuospatial processing than the other two tasks. In hearing signers, enhanced activation was absent in both left and right STC during all three tasks. Lateralization analyses demonstrated that the effect of deafness was more task-dependent in the left than the right STC whereas it was more task-independent in the right than the left STC. These findings indicate how the absence of auditory input from birth leads to dissociable and altered functions of left and right STC in deaf participants.SIGNIFICANCE STATEMENT Those born deaf can offer unique insights into neuroplasticity, in particular in regions of superior temporal cortex (STC) that primarily respond to auditory input in hearing people. Here we demonstrate that in those deaf from birth the left and the right STC have altered and dissociable functions. The right STC was activated regardless of demands on visual processing. In contrast, the left STC was sensitive to the demands of visuospatial processing. Furthermore, hearing signers, with the same sign language experience as the deaf participants, did not activate the STCs. Our data advance current understanding of neural plasticity by determining the differential effects that hearing status and task demands can have on left and right STC function.
- GeneReviews® [BOOK]
- BOOKUniversity of Washington, Seattle: Seattle (WA)
- Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex devel...
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.
- Atypical speech versus non-speech detection and discrimination in 4- to 6- yr old children with autism spectrum disorder: An ERP study. [Journal Article]
- PlosPLoS One 2017; 12(7):e0181354
- Previous event-related potential (ERP) research utilizing oddball stimulus paradigms suggests diminished processing of speech versus non-speech sounds in children with an Autism Spectrum Disorder (AS...
Previous event-related potential (ERP) research utilizing oddball stimulus paradigms suggests diminished processing of speech versus non-speech sounds in children with an Autism Spectrum Disorder (ASD). However, brain mechanisms underlying these speech processing abnormalities, and to what extent they are related to poor language abilities in this population remain unknown. In the current study, we utilized a novel paired repetition paradigm in order to investigate ERP responses associated with the detection and discrimination of speech and non-speech sounds in 4- to 6-year old children with ASD, compared with gender and verbal age matched controls. ERPs were recorded while children passively listened to pairs of stimuli that were either both speech sounds, both non-speech sounds, speech followed by non-speech, or non-speech followed by speech. Control participants exhibited N330 match/mismatch responses measured from temporal electrodes, reflecting speech versus non-speech detection, bilaterally, whereas children with ASD exhibited this effect only over temporal electrodes in the left hemisphere. Furthermore, while the control groups exhibited match/mismatch effects at approximately 600 ms (central N600, temporal P600) when a non-speech sound was followed by a speech sound, these effects were absent in the ASD group. These findings suggest that children with ASD fail to activate right hemisphere mechanisms, likely associated with social or emotional aspects of speech detection, when distinguishing non-speech from speech stimuli. Together, these results demonstrate the presence of atypical speech versus non-speech processing in children with ASD when compared with typically developing children matched on verbal age.
- A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. [Journal Article]
- MMMol Med Rep 2017; 16(4):4241-4246
- Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vest...
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing. The variant was absent in 200 healthy controls. Therefore, the c.3696_3706del variant may disrupt the interaction between myosin VIIa and other USH1 proteins, and impair melanosome transport in retinal pigment epithelial cells. Notably, bilateral auditory brainstem responses were absent in two patients of the USH family, while distortion product otoacoustic emissions were elicited in the right ears of the two patients, consistent with clinical diagnosis of unilateral auditory neuropathy spectrum disorder. These data suggested that the homozygous c.3696_3706del variant in the MYO7A gene may be the disease‑causing mutation for the disorder in this family. These findings broaden the phenotype spectrum of the MYO7A gene, and may facilitate understanding of the molecular pathogenesis of the disease, and genetic counseling for the family.
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- The management of pediatric hearing loss caused by auditory neuropathy spectrum disorder. [Review]
- COCurr Opin Otolaryngol Head Neck Surg 2017; 25(5):396-399
- CONCLUSIONS: Auditory neuropathy spectrum disorder represents a relatively rare but important diagnosis for clinicians. Treatment for this condition includes hearing aids and FM systems in more mild cases, and cochlear implants in severe cases. Cochlear implantation for many patients can lead to a good hearing outcomes but the outcome can vary greatly depending on the underlying etiology of ANSD.