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https://www.readbyqxmd.com/read/28815583/educational-and-rehabilitation-service-utilization-in-adolescents-born-preterm-or-with-a-congenital-heart-defect-and-at-high-risk-for-disability
#1
Annette Majnemer, Noemi Dahan-Oliel, Charles Rohlicek, Sean Hatzigeorgiou, Barbara Mazer, Desiree B Maltais, Norbert Schmitz
AIM: This historical cohort study describes the use of educational and rehabilitation services in adolescents born preterm or with a congenital heart defect (CHD). METHOD: Parents of 76 young people (mean age 15y 8mo [SD 1y 8mo]) with CHD and 125 born ≤29 weeks gestational age (mean age 16y [SD 2y 5mo]) completed a demographics questionnaire including educational and rehabilitation resource utilization within the previous 6 months. Rehabilitation services included occupational therapy, physical therapy, speech language pathology, psychology...
August 17, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28803710/intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin-decreases-neurological-disease-progression-in-niemann-pick-disease-type-c1-a-non-randomised-open-label-phase-1-2-trial
#2
Daniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, Kelly A King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin D Davidson, Simona Bianconi, Lee Ann Keener, Ravichandran Rao, Ariane Soldatos, Rohini Sidhu, Kimberly A Walters, Xin Xu, Audrey Thurm, Beth Solomon, William J Pavan, Bernardus N Machielse, Mark Kao, Steven A Silber, John C McKew, Carmen C Brewer, Charles H Vite, Steven U Walkley, Christopher P Austin, Forbes D Porter
BACKGROUND: Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing, 2-hydroxypropyl-β-cyclodextrins (HPβCD) significantly delayed cerebellar Purkinje cell loss, slowed progression of neurological manifestations, and increased lifespan in mouse and cat models of NPC1. The aim of this study was to assess the safety and efficacy of lumbar intrathecal HPβCD. METHODS: In this open-label, dose-escalation phase 1-2a study, we gave monthly intrathecal HPβCD to participants with NPC1 with neurological manifestation at the National Institutes of Health (NIH), Bethesda, MD, USA...
August 10, 2017: Lancet
https://www.readbyqxmd.com/read/28802387/sleep-quality-and-communication-aspects-in-children
#3
Camila de Castro Corrêa, Maria Renata José, Eduardo Carvalho Andrade, Mariza Ribeiro Feniman, Ana Paula Fukushiro, Giédre Berretin-Felix, Luciana Paula Maximino
OBJECTIVES: To correlate quality of life of children in terms of sleep, with their oral language skills, auditory processing and orofacial myofunctional aspects. METHODS: Nineteen children (12 males and seven females, in the mean age 9.26) undergoing otorhinolaryngological and speech evaluations participated in this study. The OSA-18 questionnaire was applied, followed by verbal and nonverbal sequential memory tests, dichotic digit test, nonverbal dichotic test and Sustained Auditory Attention Ability Test, related to auditory processing...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28802372/phonological-awareness-in-german-speaking-preschool-children-with-cochlear-implants-3-case-examples
#4
Bianka Wachtlin, Yvonne Turinsky, Frank Herrmann, Blanca Schaefer
OBJECTIVE: The aim was to explore PA skills German-speaking preschool children with cochlea implants (CIs) and how these skills may be related to their speech and language skills. METHODS: Three monolingual German-speaking pre-school children aged 5;04-6;01 with bilateral CIs were tested. Their cognitive, speech and language skills were assessed. Six subtests of a standardized PA test battery were administered (i.e. rhyme identification, rhyme production; phoneme identification- input and -output; phoneme blending-input and -output)...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28767196/two-unrelated-children-with-overlapping-6q25-3-deletions-motor-speech-disorders-and-language-delays
#5
Beate Peter, Hope Lancaster, Caitlin Vose, Amna Fares, Isabelle Schrauwen, Matthew Huentelman
Interstitial and terminal 6q25 deletions are associated with developmental delays, hypotonia, eye pathologies, craniofacial dysmorphologies, and structural brain anomalies. In most cases, speech and language deficits are not described in detail. We report on a case (Patient 1, age 7 years) with a de novo 6q25.3-qter deletion, 11.1 Mb long and encompassing 108 genes, and a case (Patient 2, age 5 years) with an inherited interstitial 6q25.3 deletion, located within Patient 1's deletion region and 403 kb long, the smallest 6q25 deletion reported to date...
August 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28746463/speech-fluency-profile-on-different-tasks-for-individuals-with-parkinson-s-disease
#6
Fabiola Staróbole Juste, Claudia Regina Furquim de Andrade
Purpose: To characterize the speech fluency profile of patients with Parkinson's disease. Methods: Study participants were 40 individuals of both genders aged 40 to 80 years divided into 2 groups: Research Group - RG (20 individuals with diagnosis of Parkinson's disease) and Control Group - CG (20 individuals with no communication or neurological disorders). For all of the participants, three speech samples involving different tasks were collected: monologue, individual reading, and automatic speech...
July 20, 2017: CoDAS
https://www.readbyqxmd.com/read/28741757/equivalent-missense-variant-in-the-foxp2-and-foxp1-transcription-factors-causes-distinct-neurodevelopmental-disorders
#7
Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto, Mariëtte J V Hoffer, Claudia A L Ruivenkamp, Mariëlle Alders, Nobuhiko Okamoto, Emilia K Bijlsma, Astrid S Plomp, Simon E Fisher
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (CAS), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual disability, and speech/language impairment. Using clinical whole-exome sequencing, we report an identical de novo missense FOXP1 variant identified in three unrelated patients...
July 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28738099/a-case-series-on-the-effectiveness-of-lurasidone-in-patients-with-stuttering
#8
Janet Charoensook, Gerald A Maguire
BACKGROUND: The prevalence of stuttering is approximately 1% of the population, affecting an estimated 3 million individuals in the United States. The dopamine hypothesis of stuttering explains that abnormally increased cerebral dopamine affects the balanced levels that maintain the basal ganglia circuits, which helps with timing cues in initiating speech. This is especially significant when considering treatment strategies. We report a reduction in stuttering with lurasidone, a potent D2 receptor antagonist with a relatively favorable adverse effects profile...
August 2017: Annals of Clinical Psychiatry: Official Journal of the American Academy of Clinical Psychiatrists
https://www.readbyqxmd.com/read/28736897/taking-culture-seriously-can-we-improve-the-developmental-health-and-well-being-of-australian-aboriginal-children-in-out-of-home-care
#9
S Raman, S Ruston, S Irwin, P Tran, P Hotton, S Thorne
BACKGROUND: Children in out-of-home care have well-documented health and developmental needs. Research suggests that Aboriginal children in care have unmet health and intervention needs. In metropolitan Sydney, Kari Aboriginal Resources Inc. (KARI), an Aboriginal organization, provides support to indigenous children in care, including clinical assessment and intervention. We wanted to determine the health and developmental needs of a subset of children in out-of-home care with KARI, who had been in stable care for at least a year...
July 23, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28697202/a-randomized-crossover-trial-comparing-patient-preference-for-mandibular-complete-dentures-made-with-two-different-techniques-a-short-term-follow-up
#10
Greta Avm Geerts
PURPOSE: The objective of this trial was to compare short-term patient preference for two mandibular complete denture (CD) fabrication techniques: neutral zone (NZ) and conventional (CV). MATERIALS AND METHODS: A prospective, within-subject, randomized crossover trial was performed on a sample of 37 edentulous patients with complete denture experience. Two new sets of CDs were made for each patient, one set with a CV and one with a NZ mandibular denture. After consecutively wearing each set for at least 2 months after the last adjustment visit, patients indicated their preference (CV, NZ, or none)...
July 2017: International Journal of Prosthodontics
https://www.readbyqxmd.com/read/28659661/different-cognitive-profiles-of-patients-with-severe-aphasia
#11
Chiara Valeria Marinelli, Simona Spaccavento, Angela Craca, Paola Marangolo, Paola Angelelli
Cognitive dysfunction frequently occurs in aphasic patients and primarily compromises linguistic skills. However, patients suffering from severe aphasia show heterogeneous performance in basic cognition. Our aim was to characterize the cognitive profiles of patients with severe aphasia and to determine whether they also differ as to residual linguistic abilities. We examined 189 patients with severe aphasia with standard language tests and with the CoBaGA (Cognitive Test Battery for Global Aphasia), a battery of nonverbal tests that assesses a wide range of cognitive domains such as attention, executive functions, intelligence, memory, visual-auditory recognition, and visual-spatial abilities...
2017: Behavioural Neurology
https://www.readbyqxmd.com/read/28657359/social-communication-assessment-during-post-traumatic-amnesia-and-the-post-acute-period-after-traumatic-brain-injury
#12
Joanne Steel, Alison Ferguson, Elizabeth Spencer, Leanne Togher
BACKGROUND: Social communication impairment is a persisting and debilitating consequence of traumatic brain injury (TBI). However, there has been little empirical speech-language pathology (SLP) study focusing on the early stage of recovery after TBI, including during post-traumatic amnesia (PTA). This research reports on social communication presentation and recovery during late PTA and the post-acute period, assessed with standardized measures. METHOD: Using mixed-methods case study research, four participants with severe TBI were assessed with social communication assessment measures over the later stages of PTA and/or at PTA emergence, and at follow-up three months later...
June 28, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28654944/perceptually-salient-sound-distortions-and-apraxia-of-speech-a-performance-continuum
#13
Katarina L Haley, Adam Jacks, Jessica D Richardson, Julie L Wambaugh
Purpose: We sought to characterize articulatory distortions in apraxia of speech and aphasia with phonemic paraphasia and to evaluate the diagnostic validity of error frequency of distortion and distorted substitution in differentiating between these disorders. Method: Study participants were 66 people with speech sound production difficulties after left-hemisphere stroke or trauma. They were divided into 2 groups on the basis of word syllable duration, which served as an external criterion for speaking rate in multisyllabic words and an index of likely speech diagnosis...
June 22, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28637445/cerebellar-mutism-syndrome-in-children-with-brain-tumours-of-the-posterior-fossa
#14
Morten Wibroe, Johan Cappelen, Charlotte Castor, Niels Clausen, Pernilla Grillner, Thora Gudrunardottir, Ramneek Gupta, Bengt Gustavsson, Mats Heyman, Stefan Holm, Atte Karppinen, Camilla Klausen, Tuula Lönnqvist, René Mathiasen, Pelle Nilsson, Karsten Nysom, Karin Persson, Olof Rask, Kjeld Schmiegelow, Astrid Sehested, Harald Thomassen, Ingrid Tonning-Olsson, Barbara Zetterqvist, Marianne Juhler
BACKGROUND: Central nervous system tumours constitute 25% of all childhood cancers; more than half are located in the posterior fossa and surgery is usually part of therapy. One of the most disabling late effects of posterior fossa tumour surgery is the cerebellar mutism syndrome (CMS) which has been reported in up to 39% of the patients but the exact incidence is uncertain since milder cases may be unrecognized. Recovery is usually incomplete. Reported risk factors are tumour type, midline location and brainstem involvement, but the exact aetiology, surgical and other risk factors, the clinical course and strategies for prevention and treatment are yet to be determined...
June 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28634151/speech-and-swallowing-abnormalities-in-adults-with-polg-associated-ataxia-polg-a
#15
Adam P Vogel, Natalie Rommel, Andreas Oettinger, Marius Horger, Patrick Krumm, Eva-Maria Kraus, Ludger Schöls, Matthis Synofzik
BACKGROUND: Mutations in the nuclear-encoded mitochondrial DNA polymerase gamma (POLG) can result in a wide spectrum of neurological deficits. A common presentation is progressive ataxia (POLG-A) which includes impaired speech and swallowing. The nature, severity and impact of these deficits in POLG-A is not known. A comprehensive quantitative and qualitative characterization of dysarthria and dysphagia in this recurrent ataxia disorder will assist in diagnostics, provide insights into the underlying pathology, and establish the foundation for future therapy trials...
June 19, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28621083/metacognition-in-speech-and-language-therapy-for-children-with-social-pragmatic-communication-disorders-implications-for-a-theory-of-therapy
#16
Jacqueline Gaile, Catherine Adams
BACKGROUND: Metacognition is a significant component of complex interventions for children who have developmental language disorders. Research into how metacognition operates in the content or process of developmental language therapy delivery is limited. Identification and description of proposed active therapy components, such as metacognition, may contribute to our understanding of how to deliver complex communication interventions in an optimal manner. AIMS: To analyse aspects of metacognition during therapy derived from a manualized speech and language intervention (the Social Communication Intervention Programme-SCIP) as delivered to children who have social (pragmatic) communication disorder (SPCD) and to examine the dynamic process of delivering therapy...
June 16, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28620998/a-survey-of-speech-language-therapy-provision-for-people-with-post-stroke-dysarthria-in-the-uk
#17
Nick Miller, Steven Bloch
BACKGROUND: A large number of people who experience a stroke are affected by dysarthria. This may be in isolation or in association with aphasia and/or dysphagia. Despite evidence highlighting the psychological and social impact of having post-stroke dysarthria and a number of clinical guidelines that make recommendations for appropriate management, little is known currently about UK service delivery issues relating to speech and language therapy (SLT) assessment and treatment for this group...
June 16, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28590148/the-phonological-memory-profile-of-preschool-children-who-make-atypical-speech-sound-errors
#18
Rebecca Waring, Patricia Eadie, Susan Rickard Liow, Barbara Dodd
Previous research indicates that children with speech sound disorders (SSD) have underlying phonological memory deficits. The SSD population, however, is diverse. While children who make consistent atypical speech errors (phonological disorder/PhDis) are known to have executive function deficits in rule abstraction and cognitive flexibility, little is known about their memory profile. Sixteen monolingual preschool children with atypical speech errors (PhDis) were matched individually to age-and-gender peers with typically developing speech (TDS)...
June 7, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28578754/internet-images-of-the-speech-pathology-profession
#19
Nicole Byrne
Objective The Internet provides the general public with information about speech pathology services, including client groups and service delivery models, as well as the professionals providing the services. Although this information assists the general public and other professionals to both access and understand speech pathology services, it also potentially provides information about speech pathology as a prospective career, including the types of people who are speech pathologists (i.e. demographics). The aim of the present study was to collect baseline data on how the speech pathology profession was presented via images on the Internet...
June 5, 2017: Australian Health Review: a Publication of the Australian Hospital Association
https://www.readbyqxmd.com/read/28573831/auditory-and-otologic-profile-of-alstr%C3%A3-m-syndrome-comprehensive-single-center-data-on-38-patients
#20
Spencer Lindsey, Carmen Brewer, Olga Stakhovskaya, Hung Jeffrey Kim, Chris Zalewski, Joy Bryant, Kelly A King, Jürgen K Naggert, William A Gahl, Jan D Marshall, Meral Gunay-Aygun
Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by mutations in the ALMS1 gene. Hallmark characteristics include childhood onset of severe retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, and cardiomyopathy. Here we comprehensively characterize the auditory and otologic manifestations in a prospective case series of 38 individuals, aged 1.7-37.9 years, with genetically confirmed AS. Hearing loss was preceded by retinal dystrophy in all cases, and had an average age of detection of 7...
August 2017: American Journal of Medical Genetics. Part A
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