Oculomotor Deficits after Chemotherapy in Childhood

by Einar-Jón Einarsson, Mitesh Patel, Hannes Petersen, Thomas Wiebe, Måns Magnusson, Christian Moëll, Per-Anders Fransson

Advances in the diagnosis and treatment of pediatric malignancies have substantially increased the number of childhood cancer survivors. However, reports suggest that some of the chemotherapy agents used for treatment can cross the blood brain barrier which may lead to a host of neurological symptoms including oculomotor dysfunction. Whether chemotherapy at young age causes oculomotor dysfunction later in life is unknown. Oculomotor performance was assessed with traditional and novel methods in 23 adults (mean age 25.3 years, treatment age 10.2 years) treated with chemotherapy for a solid malignant tumor not affecting the central nervous system. Their results were compared to those from 25 healthy, age-matched controls (mean age 25.1 years). Correlation analysis was performed between the subjective symptoms reported by the chemotherapy treated subjects (CTS) and oculomotor performance. In CTS, the temporal control of the smooth pursuit velocity (velocity accuracy) was markedly poorer (p

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A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss.

A novel recessive truncating mutation in MYO15A causing prelingual sensorineural hearing loss.

Int J Pediatr Otorhinolaryngol. 2016 Feb;81:92-5

Authors: Li W, Guo L, Li Y, Wu Q, Li Q, Li H, Dai C

Abstract
Hearing loss (HL) is one of the most common human defects which affects millions of people globally. The identification of deafness-related genes or loci may facilitate basic and clinical translational research on this disorder. Here, we investigated a Chinese family with autosomal recessive non-syndromic hearing impairment. Using targeted massively parallel sequencing, we identified a novel homozygous mutation, c.3525_3526insA and p.Q1175fsX1188 (NM_016239), in exon 2 of MYO15A. Sanger sequencing confirmed that affected siblings were homozygous for the mutation, whereas both normal hearing parents were heterozygous. The mutation was absent in 96 healthy controls and public databases. The insertion leads to a frameshift and a truncated form of the protein, resulting in the pathogenic effect of hearing loss for the patients. Mutations in exon 2 of MYO15A may cause a less severe phenotype, facilitating the rapid identification of mutations in exon 2 among the 66 exons when linkage of less severe hearing loss to Deafness, Autosomal Recessive 3 (DFNB3) is detected. Our data provide additional molecular information for establishing a better genotype-phenotype understanding of DFNB3.

PMID: 26810297 [PubMed - in process]

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ABR thresholds in infants born with CLP and OME and infants with OME.

ABR thresholds in infants born with CLP and OME and infants with OME.

Int J Pediatr Otorhinolaryngol. 2016 Feb;81:21-5

Authors: Sundman H, Flynn T, Tengroth B, Lohmander A

Abstract
OBJECTIVES: The aim of this study was to investigate and compare auditory brainstem response (ABR) thresholds related to otitis media with effusion (OME) in infants with and without cleft palate and/or lip (CP±L).
METHODS: Forty-seven infants with CP±L and 67 infants with OME participated in the study. Hearing thresholds of ears of infants with OME were compared between groups and within the group with CP±L.
RESULTS: Infants with CP±L and OME presented with similar hearing thresholds as infants with OME and not CP±L. Within the cleft group, infants with isolated cleft palate and OME demonstrated significantly higher hearing thresholds than infants with unilateral cleft lip and palate and OME.
CONCLUSION: A high prevalence of infants with CP±L present with OME early in life. Hearing thresholds of these infants are similar to infants without CP±L, but with OME. The ear status and hearing thresholds of infants with CP±L needs to be monitored to be able to provide the best access to hearing in order to fully allow speech and language development.

PMID: 26810283 [PubMed - in process]

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ABR thresholds in infants born with CLP and OME and infants with OME.

ABR thresholds in infants born with CLP and OME and infants with OME.

Int J Pediatr Otorhinolaryngol. 2016 Feb;81:21-5

Authors: Sundman H, Flynn T, Tengroth B, Lohmander A

Abstract
OBJECTIVES: The aim of this study was to investigate and compare auditory brainstem response (ABR) thresholds related to otitis media with effusion (OME) in infants with and without cleft palate and/or lip (CP±L).
METHODS: Forty-seven infants with CP±L and 67 infants with OME participated in the study. Hearing thresholds of ears of infants with OME were compared between groups and within the group with CP±L.
RESULTS: Infants with CP±L and OME presented with similar hearing thresholds as infants with OME and not CP±L. Within the cleft group, infants with isolated cleft palate and OME demonstrated significantly higher hearing thresholds than infants with unilateral cleft lip and palate and OME.
CONCLUSION: A high prevalence of infants with CP±L present with OME early in life. Hearing thresholds of these infants are similar to infants without CP±L, but with OME. The ear status and hearing thresholds of infants with CP±L needs to be monitored to be able to provide the best access to hearing in order to fully allow speech and language development.

PMID: 26810283 [PubMed - in process]

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School-Based Speech-Language Pathologists' Knowledge and Perceptions of Autism Spectrum Disorder and Bullying

Purpose

The purpose of the current investigation was to examine speech-language pathologists' (SLPs') knowledge and perceptions of bullying, with an emphasis on autism spectrum disorder (ASD).

Method

A 46-item, web-based survey was used to address the purposes of this investigation. Participants were recruited through e-mail and electronic mailing lists for American Speech-Language-Hearing Association (ASHA) special interest divisions 1 (Language, Learning, and Education) and 16 (School-Based Issues). Also, an embedded link to the survey was posted on the ASHA Community website and ASHA Facebook page.

Results

Participants demonstrated knowledge of many aspects of bullying research; however, they demonstrated weaknesses in others. All respondents agreed that SLPs should intervene in moments of bullying, but not all indicated that they feel comfortable intervening. Few participants indicated that their school district implemented antibullying campaigns specific to children with special needs, such as ASD.

Conclusions

As recognized experts in working with children with communication deficits, including individuals with ASD, SLPs have the opportunity to play a key role in antibullying efforts. Results revealed, however, that school-based SLPs may benefit from more information on bullying in order to understand the nature, context, and extent of this issue, as well as ways in which to respond to bullying when it is observed.

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School-Based Speech-Language Pathologists' Knowledge and Perceptions of Autism Spectrum Disorder and Bullying

Purpose

The purpose of the current investigation was to examine speech-language pathologists' (SLPs') knowledge and perceptions of bullying, with an emphasis on autism spectrum disorder (ASD).

Method

A 46-item, web-based survey was used to address the purposes of this investigation. Participants were recruited through e-mail and electronic mailing lists for American Speech-Language-Hearing Association (ASHA) special interest divisions 1 (Language, Learning, and Education) and 16 (School-Based Issues). Also, an embedded link to the survey was posted on the ASHA Community website and ASHA Facebook page.

Results

Participants demonstrated knowledge of many aspects of bullying research; however, they demonstrated weaknesses in others. All respondents agreed that SLPs should intervene in moments of bullying, but not all indicated that they feel comfortable intervening. Few participants indicated that their school district implemented antibullying campaigns specific to children with special needs, such as ASD.

Conclusions

As recognized experts in working with children with communication deficits, including individuals with ASD, SLPs have the opportunity to play a key role in antibullying efforts. Results revealed, however, that school-based SLPs may benefit from more information on bullying in order to understand the nature, context, and extent of this issue, as well as ways in which to respond to bullying when it is observed.

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School-Based Speech-Language Pathologists' Knowledge and Perceptions of Autism Spectrum Disorder and Bullying

Purpose

The purpose of the current investigation was to examine speech-language pathologists' (SLPs') knowledge and perceptions of bullying, with an emphasis on autism spectrum disorder (ASD).

Method

A 46-item, web-based survey was used to address the purposes of this investigation. Participants were recruited through e-mail and electronic mailing lists for American Speech-Language-Hearing Association (ASHA) special interest divisions 1 (Language, Learning, and Education) and 16 (School-Based Issues). Also, an embedded link to the survey was posted on the ASHA Community website and ASHA Facebook page.

Results

Participants demonstrated knowledge of many aspects of bullying research; however, they demonstrated weaknesses in others. All respondents agreed that SLPs should intervene in moments of bullying, but not all indicated that they feel comfortable intervening. Few participants indicated that their school district implemented antibullying campaigns specific to children with special needs, such as ASD.

Conclusions

As recognized experts in working with children with communication deficits, including individuals with ASD, SLPs have the opportunity to play a key role in antibullying efforts. Results revealed, however, that school-based SLPs may benefit from more information on bullying in order to understand the nature, context, and extent of this issue, as well as ways in which to respond to bullying when it is observed.

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