2016
DOI: 10.1159/000446984
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Abstract: Objective: The aim was to test the appropriateness of using autism spectrum disorder (ASD) screening tools in a hearing evaluation service. Patients and Methods: Forty-one children with a mean age of 2.8 years, of whom 33 (80.5%) were boys, were evaluated in an audiological diagnostic service using ASD screening tools that had been validated for use in Brazil and recommended by the Ministry of Health. Results: 82% of the subjects referred to the hearing diagnostic service over 18 months did not show any type o… Show more

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Cited by 4 publications
(7 citation statements)
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References 39 publications
(95 reference statements)
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“…It is otherwise important to remember that not all children with a language disorder present a concomitant hearing defect; sometimes, language skills deterioration may be the sign of a neurological condition, such as an autism spectrum disorder [111] . Also, epileptic encephalopathies, a group of severe cerebral diseases, characterized by epilepsy which may be responsible of a psychomotor regression and, in particular, of a cognitive and communicative impairment should be ruled out [112] .…”
Section: Resultsmentioning
confidence: 99%
“…It is otherwise important to remember that not all children with a language disorder present a concomitant hearing defect; sometimes, language skills deterioration may be the sign of a neurological condition, such as an autism spectrum disorder [111] . Also, epileptic encephalopathies, a group of severe cerebral diseases, characterized by epilepsy which may be responsible of a psychomotor regression and, in particular, of a cognitive and communicative impairment should be ruled out [112] .…”
Section: Resultsmentioning
confidence: 99%
“…In Brazil, cases of 3- to 4-year-old children with a speech delay who are referenced to speech therapy without screening for ASD still occur. Interestingly, Machado et al while evaluating the presence of signs of ASD in children referred to a hearing center to investigate hearing loss, despite the small sample, found signs for ASD (60%) more often than hearing loss (18%) ( 19 ).…”
Section: Discussionmentioning
confidence: 99%
“…Some advances have occurred, such as the promotion of early diagnosis by the Brazilian Academy of Pediatrics ( 59 ) and the release of guidelines for ASD diagnosis by the Brazilian Ministry of Health ( 60 , 61 ). Unfortunately, validated protocols or screening algorithms for early ASD detection have not been implemented in most Brazilian public health facilities ( 15 , 19 , 20 , 60 ), in spite of the World Health Organization (WHO) recommendation that LMICs should have an early ASD detection program ( 62 ). The insufficient information and clinical training of primary healthcare professionals, including scarce teaching about autism in medical schools, also contributes to the problem ( 6 , 19 , 63 ).…”
Section: Discussionmentioning
confidence: 99%
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“…Through these domains, collybistin has been shown to interact with gephyrin, neuroligin-2, and the GABA A R α2 subunit, playing an important role in clustering of GABA A Rs at inhibitory synapses ( Saiepour et al, 2010 ). To this point, 18 patients have been described to have either point mutations, chromosomal rearrangements and deletions involving ARHGEF9 , with a range of manifestations including ASD ( Bhat et al, 2016 ; Machado et al, 2016 ), behavior disorders (ADHD, anxiety, aggression; Kalscheuer et al, 2009 ; Lesca et al, 2011 ), intellectual disability ( Kalscheuer et al, 2009 ; Lesca et al, 2011 ; Marco et al, 2011 ; Shimojima et al, 2011 ; de Ligt et al, 2012 ; Lemke et al, 2012 ), hyperekplexia ( Harvey et al, 2004 ; Marco et al, 2008 ), and infantile epilepsy ( Harvey et al, 2004 ; Kalscheuer et al, 2009 ; Lesca et al, 2011 ; Shimojima et al, 2011 ). The majority of patients identified are male, and those that are female have been shown to have a near complete X-inactivation in favor of the affected gene ( Marco et al, 2008 ; Kalscheuer et al, 2009 ).…”
Section: Very Rare Mutations and Associated Disordersmentioning
confidence: 99%