Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder. Family-centered care (FCC) is a healthcare delivery approach that aims to create an equal partnership between caregivers and providers. FCC has been shown to improve parental wellbeing, their knowledge of the condition and care, and improve their feelings of self-efficacy and personal control. The purpose of this study was to explore the healthcare experiences of family caregivers of children and adults with RTS to understand the issues they encounter when working with medical professionals and to examine their perspectives on how to improve FCC. Primary family caregivers of individuals with RTS took an online mixed-method survey that contained three primary components: a demographic survey, the Measures of Processes of Care-20 (MPOC-20) [a measure of the FCC an individual feels they receive], and a qualitative assessment of negative and positive interactions with medical professionals and priority areas for improvement. Qualitative data were analyzed using thematic analysis. Quantitative data were analyzed with descriptive statistics. An analysis of variance test was used to determine whether values statistically differed between different-age groups of individuals with RTS being cared for. Sixty-three caregivers completed the survey. The average score of the Providing General Information subscale of the MPOC-20 was 3.18, lower than that seen in other studies. The average scores of the other subscales of the MPOC-20 ranged from 4.60 to 5.02, comparable to other studies of caregivers of children with other medical conditions. All aspects of FCC were ranked as important by caregivers. There were no differences in MPOC-20 values between those caring for the individuals with RTS in different-age groups reviewed. In the qualitative responses, parents noted that experiences with medical professionals would be improved if healthcare providers actively provided FCC, collaborated with parents and other providers, respected caregivers' time and breadth of knowledge and lived experience, gave a more balanced description of the condition, showed greater respect toward their loved ones and included them in the conversation, and made an effort to learn about RTS. The changes that parents would like to see in their child's care were not specific to one discipline and could be implemented by all healthcare specialists. While caregivers report that they receive moderate levels of FCC, they indicated that areas of FCC could be improved.

Down syndrome and the autonomic nervous system, an educational review for the anesthesiologist.

Approximately one in every 700 babies in the United States is born with Down syndrome, or 0.14%. Children with Down syndrome have cognitive impairment and congenital malformations necessitating frequent occurrences of general anesthesia and surgery. The thoughtful perioperative care of children with Down syndrome is relevant and acutely complex for the pediatric anesthesiologist. Behavior, sedation, hypotonia, upper airway obstruction, venous access, and bradycardia are omnipresent concerns apart from the surgical pathology. Down syndrome is also associated with autonomic nervous system dysfunction, a comorbidity that is overlooked in discussions of perioperative care and is described thus far in adults. Autonomic nervous system function or dysfunction may explain the phenotypical features of the perioperative challenges listed above. For this reason, understanding the development and measurement of autonomic nervous system function is important for the pediatric anesthesiologist. Definition and quantification of sympathetic and parasympathetic function will be reviewed.

Technology assisted language intervention (TALI) for children who are deaf/hard of hearing: promising impact on pragmatic skills.

Children who are deaf and hard of hearing (DHH) often demonstrate pragmatic language difficulties which can impact academic and social outcomes. This randomized control trial for DHH children, ages 3-12 years, explored the Technology-Assisted Language Intervention (TALI), incorporating augmentative and alternative communication technology (AAC) into traditional speech/language therapy, compared to treatment-as-usual (TAU) to determine impact on pragmatics. Pragmatic outcome measures included parent reported Pragmatics Profile of the CELF-5 (for children age ≥5 years) and CELF-P Descriptive Pragmatics Profile (for children <5 years) in addition to parent reported Social and Communication domains of the Vineland Adaptive Behavior Scales,Third Edition (VABS). Over 24 weeks, children ≥5 years in the TALI made significantly more progress (increase in raw scores) on the Pragmatics Profile compared to children in TAU (12.7 points vs. -6.0 points; p = 0.04) and also showed significant gains on two of the three subscales. For children ≥5 years, no significant VABS changes were seen in either intervention group. For children <5 years, there were no statistically significant differences in growth on the CELF-P total pragmatics raw score or on any subdomain. However, children in TALI had significant increases in the mean VABS Communication (86.7-99.1) and Social domain standard scores (91.8-97.4;p = 0.01), while gains for children in TAU on the Communication and Social domain standard scores were not statistically significant. These promising results support the need for additional research exploring the effectiveness of AAC supported speech/language therapy to enhance DHH children's pragmatic language skills. Trial registration: ClinicalTrials.gov identifier: NCT02998164.

Supporting families of children who are deaf or hard of hearing with an autism spectrum disorder.

Families of children who are deaf or hard of hearing (Deaf/HH) with an autism spectrum disorder (ASD) experience many frustrations and challenges in the identification of ASD, accessing supports and services to address all of their child's needs, and identifying networking and support opportunities with other families with children with similar needs. Professionals working with families are in a unique position to help navigate the often disconnected systems of services for children who are Deaf/HH and services for children with ASD. This article poses some possible strategies that professionals can implement in practice when working with children who are Deaf/HH with an ASD.

A summary of current understanding regarding children with autism spectrum disorder who are deaf or hard of hearing.

This article provides a consensus perspective based on the authors' expertise and the limited available literature regarding our understanding of children with an autism spectrum disorder (ASD) who are deaf or hard of hearing (D/HH). The challenges in the accurate identification of an ASD in children who are D/HH, including red flags for a potential ASD and screening and assessment for ASD, are described in this article. Additionally, strategies to guide professionals in their communication about a possible ASD with families and to frame the need for expanding aspects of communication important for this group of children are suggested.

Needs of parents of children who are deaf/hard of hearing with autism spectrum disorder.

Little is known about children who are deaf or hard of hearing (D/HH) with a coexisting autism spectrum disorder (ASD). The objective of our study was to understand the needs of children who are D/HH with coexisting ASD. We posed questions for group discussion about diagnostic process, impact of dual diagnosis on communication, and helpful resources. Four parents of three children participated. Challenges in the diagnostic process included the challenges in the appropriateness of the evaluation tools and the limited expertise of the professionals performing the evaluations. Broad-based special educational settings were perceived as helpful. Families described a range of broad-based communication strategies (spoken, sign, and written language, augmentative communication approaches). Families prioritized a focus on behavior and day-to-day functioning over academic performance. Families recognized the lack of professionals who understand ASD and deafness but have found the internet and technology as a mechanism to connect to information and families with similar needs.

The Association Between Family Resources and Language Among Young Children Who are Deaf and Hard of Hearing.

OBJECTIVE: Our study (1) examined demographic factors in families with children with bilateral hearing loss and how they relate to Family Resource Scale (FRS) questionnaire data and (2) examined correlations between FRS data and measures of language. METHODS: Children aged 6 months to 10 years with bilateral hearing loss were enrolled. Parents completed the FRS questionnaire to assess their access to socioeconomic resources at the first language measurement visit. Assessments measured receptive and expressive language, nonverbal intelligence quotient, and adaptive functioning. RESULTS: Among the 85 children included in the analysis, approximately 40% had hearing loss classified as mild to moderate and 25% had a cochlear implant. Participants' mean FRS score was 130 (SD 16.6) (with the highest possible score of 150 and indicating better access to resources). Significant positive correlations ( p -value ≤ 0.05) were found between maternal education, paternal education, and family income and several FRS subscales (Growth and Support, Necessities in Health, Childcare, Personal Resources). Significant positive correlations were found between the Necessities in Health subscale and all the language measurements. CONCLUSION: Children whose parents reported better access to socioeconomic resources related to health care had higher language performance scores. Although early access to intervention services has improved for deaf or hard-of-hearing children, there are other variables contributing to language development, including access to socioeconomic resources. This study highlights the need for further research addressing more specific and modifiable resources to improve language performance for deaf or hard-of-hearing children.

Evaluating Processing Speed and Reaction Time Outcome Measures in Children and Adolescents with Down Syndrome.

Reliable and valid cognitive outcome measures, including examiner-administered and computer-facilitated assessments of processing speed and reaction time, are necessary for future clinical trials that include individuals with Down syndrome (DS). The current study evaluated the score distributions and psychometric properties of four examiner-administered and three computerized processing speed and reaction time measures. Participants included 97 individuals with DS, aged 6 to 17 (M = 12.6, SD = 3.3). Two examiner-administered measures (Differential Ability Scales-II Rapid Naming and Cat/dog Stroop Congruent) met most predetermined psychometric criteria. Other assessments demonstrated good test-retest reliability and had negligible practice effects but lacked adequate feasibility. Recommendations for using processing speed and reaction time assessments in research and suggestions for modifications of measures are discussed.

Factors Associated with Early Intervention Intensity for Children Who Are Deaf or Hard of Hearing.

We quantified the intensity of early intervention (EI) services allocated to 1262 children who were deaf or hard of hearing (DHH) within a state program and identified factors associated with intervention intensity. Child specific data were collected on children born between 2008 and 2014. Data from Individualized Family Service Plans of children enrolled in Part C EI programming were evaluated for the type and duration of services during their EI enrollment. Associations between EI intensity and child/family variables were examined. Median age of EI enrollment was 5.3 months. The most frequently received services included primary service coordination, specialized DHH service, special instruction, language therapy, and family training; 60% of children received 4 or more different EI services. The median service intensity was 138.1 min per month across all EI years. The factors associated with higher EI intensity included severe hearing loss, bilateral hearing loss and presence of a disability. Children enrolled in EI at later ages received higher intensity of specialized DHH services, suggesting a need to "catch up" due to late acquisition of services. Evaluating EI service intensity broadens our understanding of effective components of state-based programs that support the developmental needs of children who are DHH.

The Importance of Accessible Language for Development in Deaf and Hard of Hearing Children.

CASE: Brady is a 5-year-old boy who was seen in a multidisciplinary clinic for evaluation of deaf and hard of hearing children. Brady was born full-term after an uncomplicated pregnancy. He was referred for audiological evaluation after his newborn hearing screen and was diagnosed with a severe-to-profound bilateral sensorineural hearing difference at age 6 months. He has no other medical history.Brady was referred for developmental evaluation after completing his medical workup and cochlear implantation at an outside institution. No etiologic cause of his hearing difference was identified, and his diagnosis was presumed to be genetic and nonsyndromic. He had previously undergone right cochlear implantation at age 14 months and left cochlear implantation at age 23 months. Brady received speech and language therapy, with an emphasis on spoken language through early intervention, and met all motor and social milestones at appropriate times. Despite therapy, he continued to show delays in meeting language and communication milestones. Given concerns over persistent language delays after cochlear implantation, he underwent an interdisciplinary speech, language, and psychological evaluation at 3 years 4 months old. At the time of his evaluation, he was noted to have robust social skills but significantly delayed expressive and receptive language skills with language use limited to single words.After the initial evaluation, he was enrolled at a school for the deaf with instruction provided in both spoken English and American Sign Language. In follow-up evaluation at age 4 years 8 months, Brady was described as happy, cooperative, and eager to connect socially. It was noted that he had age-appropriate visual spatial cognitive and motor skills and had made some gains compared with prior assessments in both spoken and sign language. Notably, however, his language abilities and most areas of adaptive living skills remained below what would be expected by his developmental age and in some domains plateaued compared with prior assessments. He was able to produce some words and signs and responded to all prompts using only single words or signs and gestures. Brady's parents present today to your multidisciplinary clinic asking to understand why his language has not progressed further and to learn how they can help him reach his full potential.

Association of Age of Enrollment in Early Intervention with Emergent Literacy in Children Who Are Deaf or Hard of Hearing.

OBJECTIVE: Literacy skill development in deaf or hard of hearing (DHH) children is essential for success in school and beyond. Our objective was to evaluate the association between age of early intervention (EI) enrollment for DHH children and emergent literacy in preschool. METHODS: This was a population-based study that leveraged state public health and education data on all children identified with hearing loss. The sample included children born between 2008 and 2014 enrolled in EI for hearing loss who received preschool supports (years 2011-2014) through the Ohio Department of Education. The Get it! Got it! Go!, measuring emergent literacy domains of picture naming, rhyming, and alliteration, was administered during preschool in fall and spring. Exposure was enrollment into EI before age 6 months (early) versus at/after 6 months (later). Propensity score matching and mixed model analyses were used to examine associations between EI enrollment and outcomes over time. Model least square means with 95% confidence intervals (CIs) were reported. RESULTS: One hundred two successful matches were made for 256 preschoolers. Children enrolled in EI early had significantly higher mean scores (mean [95% CI]) over time for emerging literacy domains of picture naming (2.42 [0.47-4.37]), rhyming (1.2 [0.35-2.06]), and alliteration (0.61 [0.15-1.07]) compared with later enrolled children. Children enrolled early had significantly higher emergent literacy scores at entry, although literacy development was similar between groups. CONCLUSION: Children enrolled in EI before age 6 months had consistently higher scores in emergent literacy components over time compared with children enrolled at/after age 6 months.

Comparison of Attention-Deficit Hyperactivity Disorder in Typically Developing Children and Children with Down Syndrome.

OBJECTIVE: This study aimed to evaluate attention-deficit hyperactivity disorder (ADHD) symptom patterns among children with Down syndrome (DS) with or without ADHD and typically developing (TD) children with ADHD. METHODS: Parents and teachers rated symptoms of inattention, hyperactivity, and general behavioral concerns for 22 children with DS and comorbid diagnoses of ADHD (DS + ADHD), 66 gender-matched and age-matched children with DS with no diagnosis of ADHD (DS - ADHD), and 66 gender-matched and age-matched TD children with ADHD (TD + ADHD). Children with DS were recruited from the community. TD children with ADHD were recruited from a specialty clinic evaluating for ADHD. RESULTS: Parents tended to report higher scores of inattention and hyperactivity for TD children with ADHD compared with children with DS and no ADHD. Although mean ADHD symptom summary scores were not significantly different in DS + ADHD and DS - ADHD, specific parent-report items (e.g., distractibility and being "on the go") did tend to differentiate these groups. By contrast, teachers tended to report higher inattention and hyperactivity scores for DS + ADHD compared with both DS - ADHD and TD + ADHD. Specific teacher-reported items tending to differentiate DS + ADHD and DS - ADHD included difficulties following through on tasks, avoiding tasks, leaving one's seat, and excessive talking. CONCLUSION: Variability in response patterns between parent and teacher reports for children with and without DS highlights the need to evaluate ADHD symptoms across environments. Our findings also suggest specific items that may particularly be helpful in distinguishing children with DS who do and do not have ADHD, although replication is needed.

Evaluating Verbal Fluency Outcome Measures in Children With Down Syndrome.

This study evaluates the psychometric properties of a verbal fluency task for potential use as an outcome measure in future clinical trials involving children with Down syndrome. Eighty-five participants attempted a modified version of the Neuropsychological Assessment of Children, Second Edition Word Generation Task at two time points. In the full sample, the measure fell below a priori reliability and feasibility criteria, though feasibility of the semantic trials were higher than feasibility of the phonemic trials. Performance on the measure correlated with chronological age and IQ scores, and no sex-related effects were found. Additional analyses suggested that the semantic verbal fluency trials might be appropriate for children with Down syndrome 10 years of age and older.

Child Sleep Linked to Child and Family Functioning in Children with Down Syndrome.

Sleep problems have a bi-directional impact on the daytime performance of children, parental well-being, and overall family functioning in the general population. Children with Down syndrome (DS) are at a high risk of sleep problems, yet the relationship between sleep problems, adaptive functioning, and family stress in children with DS is not well documented. We examined the relationship between sleep (i.e., duration and quality) and child and parent/family functioning. Sixty-six children with DS wore an actigraph for a week to assess their sleep duration and sleep efficiency. Their parents completed ratings on child sleep duration and parasomnias, child adaptive functioning, parental depression and sleep, and family stress. The parents' reports of their children's sleep duration were associated with parental depressive symptoms. The parents' reports of their children's restless sleep behaviors were associated with poorer performances in child-compliant/calm behaviors, worse parental sleep, and negative parental feelings and sibling relationships. The findings from actigraph measures of the children's sleep demonstrated that greater sleep efficiency was associated with greater child adaptive functioning and fewer parental depressive symptoms. The study findings provide preliminary evidence that sleep problems are related to child adaptive functioning, parental functioning, and family stress in children with DS.

A Technology-Assisted Language Intervention for Children Who Are Deaf or Hard of Hearing: A Randomized Clinical Trial.

BACKGROUND AND OBJECTIVES: Children who are deaf or hard of hearing (DHH) often have persistent language delays despite early identification and interventions. The technology-assisted language intervention (TALI), which incorporates augmentative and alternative communication technology into a speech-language therapy model, was designed to support language learning. The study objective was to evaluate the impact of the TALI on spoken language outcomes in DHH children. METHODS: Children aged 3 to 12 years with mild to profound bilateral hearing loss were enrolled in a single-site randomized controlled trial. Children were randomly assigned to receive the TALI or treatment as usual (TAU) (with no change in current care) and were followed for 24 weeks. Primary outcomes included spoken language measures elicited from language samples. Secondary outcomes included standardized assessments. Intention-to-treat analyses were used. RESULTS: Analyses focused on 41 children randomly assigned to TALI (n = 21) or TAU (n = 20). Among all participants, mean age was 6.3 years (SD 2.5). Over 24 weeks, children in the TALI group, compared with those in the TAU group, had significantly greater increases in the length of phrases they used to express themselves (ß = .91 vs .15, respectively; P< .0001). Similar findings were seen with conversational turn-taking and number of different words spoken. CONCLUSIONS: Providing visual supports for language concepts that are typically challenging for DHH children to acquire allowed children to process and comprehend spoken language more fully. Such strategies can mitigate persistent language delays with the goal of improving lifelong outcomes and independence across settings.

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.

CHARGE syndrome (OMIM 214800) is a condition characterized by multisystem involvement with CHD7 pathogenic mutations leading to disease in the majority of patients. Discovery of the molecular cause of CHARGE unmasked a larger phenotypic spectrum than was previously appreciated. Within our interdisciplinary CHARGE syndrome program, we sought to characterize our CHD7-positive CHARGE cohort without coloboma or choanal atresia, highlighting complications and outcomes. We describe 18 individuals with CHD7-confirmed diagnosis from 15 families. The most sensitive finding in the cohort was temporal bone malformations, present in 13/15 individuals. Individuals had an average of 1.6 major features and 3.3 minor features defined by the Blake et al. guidelines. Despite lack of major features or major malformations, the majority of individuals continued to have difficulties with pneumonia, aspiration, secretion management and motility issues that greatly impacted their lives. Our findings illustrate the need for molecular testing and timely recognition given that the major co-morbidities are frequently experienced by patients with the mildest clinical spectrum of CHARGE syndrome.

Demographic and Clinical Characteristics Associated With Adherence to Guideline-Based Polysomnography in Children With Down Syndrome.

OBJECTIVES: To compare the demographic and clinical characteristics of children with Down syndrome who did and did not receive polysomnography to evaluate for obstructive sleep apnea after publication of the American Academy of Pediatrics' guidelines recommending universal screening by age 4 years. STUDY DESIGN: Retrospective cohort study. SETTING: Single tertiary pediatric hospital. METHODS: Review was conducted of children with Down syndrome born between 2007 and 2012. Children who obtained polysomnography were compared with children who did not, regarding demographic data, socioeconomic status, and comorbidities. RESULTS: We included 460 children with Down syndrome; 273 (59.3%) received at least 1 polysomnogram, with a median age of 3.6 years (range, 0.1-8.9 years). There was no difference in the distribution of sex, insurance status, or socioeconomic status between children who received polysomnography and those who did not. There was a significant difference in race distribution (P = .0004) and distance from home to the medical center (P < .0001) between groups. Among multiple medical comorbidities, only children with a history of hypothyroidism (P = .003) or pulmonary aspiration (P = .01) were significantly more likely to have obtained polysomnography. CONCLUSIONS: Overall, 60% of children with Down syndrome obtained a polysomnogram. There was no difference between groups by payer status or socioeconomic status. A significant difference in race distribution was noted. Proximity to the medical center and increased medical need appear to be associated with increased likelihood of obtaining a polysomnogram. This study illustrates the need for improvement initiatives to increase the proportion of patients receiving guideline-based screening.

Sleep Architecture in Children With Down Syndrome With and Without Obstructive Sleep Apnea.

OBJECTIVE: To characterize polysomnographic sleep architecture in children with Down syndrome and compare findings in those with and without obstructive sleep apnea. STUDY DESIGN: Case series with retrospective review. SETTING: Single tertiary pediatric hospital (2005-2018). METHODS: We reviewed the electronic health records of patients undergoing polysomnography who were referred from a specialized center for children with Down syndrome (age, ≥12 months). Continuous positive airway pressure titration, oxygen titration, and split-night studies were excluded. RESULTS: A total of 397 children were included (52.4% male, 81.6% Caucasian). Mean age at the time of polysomnography was 4.7 years (range, 1.4-14.7); 79.4% had obstructive sleep apnea. Sleep variables were reported as mean (SD) values: sleep efficiency, 85% (11%); sleep latency, 29.8 minutes (35.6); total sleep time, 426 minutes (74.6); rapid eye movement (REM) latency, 126.8 minutes (66.3); time spent in REM sleep, 22% (7%); arousal index, 13.3 (5); and time spent supine, 44% (28%). There were no significant differences between those with obstructive sleep apnea and those without. Sleep efficiency <80% was seen in 32.5%; 34.3% had a sleep latency >30 minutes; 15.9% had total sleep time <360 minutes; and 75.6% had an arousal index >10/h. Overall, 69.2% had ≥2 metrics of poor sleep architecture. REM sleep time <20% was seen in 35.3%. REM sleep time decreased with age. CONCLUSION: In children with Down syndrome, 32.5% had sleep efficiency <80%; 75.6% had an elevated arousal index; and 15.9% had total sleep time <360 minutes. More than a third of the patients had ≥3 markers of poor sleep architecture. There was no difference in children with or without obstructive sleep apnea.

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to analyze and determine the accurate genetic causes of the impairment. Up to now, 10 genes, namely, GJB2, GJB6, SLC26A4, TECTA, PJVK, Col11A2, Myo15A, TMC1, RDX and microRNA (miR-183), have been studied in an Iranian population. The prevalence of HL in Iran was estimated to be 2-3 times higher than that in other parts of the world. Here, the most common bases of congenital nonsyndromic hearing loss (NSHL) are discussed. We reviewed GJB2, GJB6 (large deletion), TECTA, SLC26A4 and PEJVK mutations, and studied their frequencies and distributions in different ethnic groups in 1934, 500, 121, 80 and 34 unrelated families throughout Iran, respectively. GJB2 mutation was the most common factor causing NSHL, with a mean frequency of 18.17% in the Iranian population. The importance of Iran's geographical location in the migration pathway from west to east through the silk route was also highlighted. SLC26A4 and TECTA mutations were the second and third main reasons of HL and accounted for up to 10 and 4% of prelingual HL in Iran, respectively. Mutations in GJB2, SLC26, TECTA and PJVK genes have an important role in HL in Iran and a screening test should be generated for better intervention and diagnosis programs.

Relational Factors in Pragmatic Skill Development: Deaf and Hard of Hearing Infants and Toddlers.

In this article, we review relational factors in early childhood believed to contribute in unique ways to pragmatic skill development in deaf and hard of hearing (DHH) infants and toddlers. These factors include attending to infant interactions with caregivers and others, supporting development of theory of mind through play and use of mental state language (ie, describing one's own or others' thoughts, feelings, and beliefs), and providing accessible opportunities for social interaction. On the basis of a review of the literature and clinical experience, we offer prescriptive strategies for supporting DHH children's development in these areas. To improve outcomes for DHH children, medical care providers and allied health professionals have a responsibility to support the development of young DHH children's pragmatic abilities by understanding these variables, coaching caregivers regarding their importance, and facilitating referrals for support when necessary.