Content uploaded by Anne Marie Tharpe
Author content
All content in this area was uploaded by Anne Marie Tharpe on Oct 12, 2019
Content may be subject to copyright.
A preview of the PDF is not available
Hearing Loss among Persons with Down Syndrome
Abstract
Communicative interactions provide the foundation for cognitive and social development early in life and continue to impact our behaviors, social patterns, and thoughts throughout our lives. Expressive and receptive exchanges are essential to communication, and hearing is an essential part of all spoken communicative attempts. For individuals who use spoken communication, maximizing auditory ability is imperative. This is especially true for those with Down syndrome as they are susceptible to expressive and receptive communicative difficulties and vulnerable to auditory disorders. Hearing loss can interfere with a child’s ability to develop spoken language and influence subsequent academic and psychosocial development. Even children with mild hearing loss can experience greater academic difficulty than their peers with normal hearing. The early effects of hearing loss on academic and social development can remain throughout adulthood. Though individuals with Down syndrome are prone to hearing loss, the effects can be lessened with accurate and early identification when accompanied by appropriate ongoing medical and audiologic management. It is important for all those involved in the lives of children and adults with Down syndrome to recognize the auditory barriers that are likely to exist and to remain diligent in their efforts to seek ongoing otologic and audiologic care. This review discusses typical development of the human auditory system and what is known about the structure and function of the auditory systems of individuals with Down syndrome. In addition, we describe behavioral and physiologic assessments of auditory sensitivity and conclude with a discussion of hearing technology options for individuals with Down syndrome and hearing loss.
... Children and youths with complex needs, here indicating having severe physical disabilities and complex communication needs [1] such as cerebral palsy with severe motor impairments and Rett syndrome, encounter difficulties using speech for everyday communication and may be at great risk of participation restrictions in daily activities [2,3]. Without adaptations, the dysfunction of movement of children/youths with complex needs and the interplay between the impairments in cognition, motor, or other domains might Communicative interaction, including interactional sequences of communicative behaviors in the persons interacting (e.g., initiation of a conversation or response), communicative functions during interaction (e.g., requesting an object or answering a question), and the means of communication (e.g., using speech or eye pointing) [27], is one of the building blocks of cognitive and social development [28]. Nevertheless, research has indicated that children/youths with complex needs show a limited range of communicative interaction as they tend to play nondirective or non-initiating roles, give more adopting responses as yes-no answers, and provide less information [5,15,27]. ...
Use of eye-gaze assistive technology (EGAT) provides children/youths with severe motor and speech impairments communication opportunities by using eyes to control a communication interface on a computer. However, knowledge about how using EGAT contributes to communication and influences dyadic interaction remains limited.
Aim:
By video-coding dyadic interaction sequences, this study investigates the impacts of employing EGAT, compared to the Non-EGAT condition on the dyadic communicative interaction.
Method:
Participants were six dyads with children/youths aged 4-19 years having severe physical disabilities and complex communication needs. A total of 12 film clips of dyadic communication activities with and without EGAT in natural contexts were included. Based on a systematic coding scheme, dyadic communication behaviors were coded to determine the interactional structure and communicative functions. Data were analyzed using a three-tiered method combining group and individual analysis.
Results:
When using EGAT, children/youths increased initiations in communicative interactions and tended to provide more information, while communication partners made fewer communicative turns, initiations, and requests compared to the Non-EGAT condition. Communication activities, eye-control skills, and communication abilities could influence dyadic interaction.
Conclusion:
Use of EGAT shows potential to support communicative interaction by increasing children's initiations and intelligibility, and facilitating symmetrical communication between dyads.
... The complexity of speech production characteristics in DS is purportedly the result of any combination of causes, including anatomic differences (Korayem et al., 2019;Rodrigues et al., 2019;Sforza et al., 2012), motor speech disorders (Coêlho et al., 2020;Kumin, 2006;Rupela et al., 2016;E. M. Wilson et al., 2019a), cognitive-linguistic disorders (Carr, 2012;Lukowski et al., 2019), sensorimotor disorders (Weeks et al., 2000), hearing loss (Nightengale et al., 2017;Porter & Tharpe, 2010), and comorbid conditions, such as autism spectrum disorder (Capone et al., 2005) and/or attention-deficit/hyperactivity disorder (Ekstein et al., 2011). ...
Purpose
The aim of this study was to determine how the speech disorder profiles in Down syndrome (DS) relate to reduced intelligibility, atypical overall quality, and impairments in the subsystems of speech production (phonation, articulation, resonance, and prosody).
Method
Auditory-perceptual ratings of intelligibility, overall quality, and features associated with the subsystems of speech production were obtained from recordings of 79 children and adults with DS. Ratings were made for sustained vowels (62 of 79 speakers) and short sentences (79 speakers). The data were analyzed to determine the severity of the affected features in each speaking task and to detect patterns in the group data by means of principal components analysis.
Results
Reduced intelligibility was noted in 90% of the speakers, and atypical overall speech quality was noted in 100%. Affected speech features were distributed across the speech production subsystems. Principal components analysis revealed four components each for the vowel and sentence tasks, showing that individuals with DS are not homogeneous in the features of their speech disorder.
Discussion
The speech disorder in DS is complex in its perceptual features and reflects impairments across the subsystems of speech production, but the pattern is not uniform across individuals, indicating that attention must be given to individual variation in designing treatments.
... Children born with genetic disorders such as Down syndrome can show signs of speech and language delay. Hearing problems are also very common in these children, mainly stemming from middle ear pathology such as otitis media (Porter & Tharpe, 2010). This then has the additive effect of poorer speech perception, presenting further challenges for children with this disorder. ...
... as a rule, they are lively, imitative, and often have a love of music which is rather striking' ' -Penrose (1933), quoted in Blacketer-Simmonds (1953) DS, typically caused by full or partial trisomy of chromosome 21, is the most common chromosomal cause of intellectual disability (ID), occurring in 10.3 in 10,000 live births (Bell, Rankin, & Donaldson, 2003). Individuals with DS have a wide range of cognitive and physical impairments, including delayed language (particularly expressive language) and short-term auditory memory (Chapman & Hesketh, 2001;Dykens, Hodapp, & Evans, 2006), hearing loss (Porter & Tharpe, 2010), congenital heart defects (Freeman et al., 2008), accelerated aging, and earlier onset dementia (Deb & McHugh, 2010). Cognitive and adaptive behaviors appear to plateau or decline in adulthood (Brown, Greer, Aylward, & Hunt, 1990;Dykens et al., 2006). ...
This chapter reviews studies of musicality in individuals with Williams syndrome, Down syndrome, and autism spectrum disorders. Music can be used to assess a wide range of perceptual, cognitive, motor, and affective processes. We discuss how the study of musicality contributes to our understanding of each of these syndromes, drawing connections to the underling neurobiology when possible. After consideration of the methodological limitations of previous studies, we make suggestions for future areas of research within this field. Research into musicality in these developmental disorders can contribute to overarching questions about music, including domain general versus domain-specific mechanisms, development of musical interest and skill, and musical enculturation. Implications for understanding both typical and atypical development are discussed.
... as a rule, they are lively, imitative, and often have a love of music which is rather striking' ' -Penrose (1933), quoted in Blacketer-Simmonds (1953) DS, typically caused by full or partial trisomy of chromosome 21, is the most common chromosomal cause of intellectual disability (ID), occurring in 10.3 in 10,000 live births (Bell, Rankin, & Donaldson, 2003). Individuals with DS have a wide range of cognitive and physical impairments, including delayed language (particularly expressive language) and short-term auditory memory (Chapman & Hesketh, 2001;Dykens, Hodapp, & Evans, 2006), hearing loss (Porter & Tharpe, 2010), congenital heart defects (Freeman et al., 2008), accelerated aging, and earlier onset dementia (Deb & McHugh, 2010). Cognitive and adaptive behaviors appear to plateau or decline in adulthood (Brown, Greer, Aylward, & Hunt, 1990;Dykens et al., 2006). ...
This chapter reviews studies of musicality in individuals with Williams syndrome, Down syndrome, and autism spectrum disorders. Music can be used to assess a wide range of perceptual, cognitive, motor, and affective processes. We discuss how the study of musicality contributes to our understanding of each of these syndromes, drawing connections to the underling neurobiology when possible. After consideration of the methodological limitations of previous studies, we make suggestions for future areas of research within this field. Research into musicality in these developmental disorders can contribute to overarching questions about music, including domain general versus domain-specific mechanisms, development of musical interest and skill, and musical enculturation. Implications for understanding both typical and atypical development are discussed.
As do those in the general population, individuals with intellectual and developmental disabilities (IDD) must make significant life decisions. In this chapter, we delineate some of the advances made toward understanding the link between etiology and decision making among individuals with IDD. We discuss the principles employed to examine etiology and various issues of decision making, in terms of the general population and for individuals with IDD. We illustrate etiological differences by providing an overview of differences in decision making patterns among persons with Williams syndrome, Prader-Willi syndrome, and Down syndrome, along with corresponding behavioral implications. We conclude with recommendations for etiology-specific interventions to improve the decision making of persons with IDD.
Fully revised, this new edition reviews the most up-to-date and clinically relevant information on the mental health and behavioral problems of people with intellectual, developmental and learning disabilities, also previously known as mental retardation. Providing the latest evidence base from the literature and embracing clinical experience, it covers the essential facts and concepts relating to coexisting medical and psychiatric disorders, with new and updated chapters on mental health and epilepsy, schizophrenia spectrum disorders, personality disorders, and mental health problems in people with autism and related disorders. The disorder-based chapters are complemented by chapters on carer and family perspectives, possible future developments and contributions highlighting the principles of assessment, management and services from global and historical perspectives. This is essential hands-on practical advice for psychiatrists, psychologists and all other mental health professionals including nurses, therapists, social workers, managers, service providers and commissioners.
Fully revised, this new edition reviews the most up-to-date and clinically relevant information on the mental health and behavioral problems of people with intellectual, developmental and learning disabilities, also previously known as mental retardation. Providing the latest evidence base from the literature and embracing clinical experience, it covers the essential facts and concepts relating to coexisting medical and psychiatric disorders, with new and updated chapters on mental health and epilepsy, schizophrenia spectrum disorders, personality disorders, and mental health problems in people with autism and related disorders. The disorder-based chapters are complemented by chapters on carer and family perspectives, possible future developments and contributions highlighting the principles of assessment, management and services from global and historical perspectives. This is essential hands-on practical advice for psychiatrists, psychologists and all other mental health professionals including nurses, therapists, social workers, managers, service providers and commissioners.
Binaural hearing results in a number of listening advantages relative to monaural hearing, including enhanced hearing sensitivity and better speech understanding in adverse listening conditions. These advantages are facilitated in part by the ability to detect and use interaural cues within the central auditory system. Binaural hearing for children with Down syndrome could be impacted by multiple factors including, structural anomalies within the peripheral and central auditory system, alterations in synaptic communication, and chronic otitis media with effusion. However, binaural hearing capabilities have not been investigated in these children. This study tested the hypothesis that children with Down syndrome experience less binaural benefit than typically developing peers.
Participants included children with Down syndrome aged 6 to 16 years (n = 11), typically developing children aged 3 to 12 years (n = 46), adults with Down syndrome (n = 3), and adults with no known neurological delays (n = 6). Inclusionary criteria included normal to near-normal hearing sensitivity. Two tasks were used to assess binaural ability. Masking level difference (MLD) was calculated by comparing threshold for a 500-Hz pure-tone signal in 300-Hz wide Gaussian noise for N0S0 and N0Sπ signal configurations. Binaural intelligibility level difference was calculated using simulated free-field conditions. Speech recognition threshold was measured for closed-set spondees presented from 0-degree azimuth in speech-shaped noise presented from 0-, 45- and 90-degree azimuth, respectively. The developmental ability of children with Down syndrome was estimated and information regarding history of otitis media was obtained for all child participants via parent survey.
Individuals with Down syndrome had higher masked thresholds for pure-tone and speech stimuli than typically developing individuals. Children with Down syndrome had significantly smaller MLDs than typically developing children. Adults with Down syndrome and control adults had similar MLDs. Similarities in simulated spatial release from masking were observed for all groups for the experimental parameters used in this study. No association was observed for any measure of binaural ability and developmental age for children with Down syndrome. Similar group psychometric functions were observed for children with Down syndrome and typically developing children in most instances, suggesting that attentiveness and motivation contributed equally to performance for both groups on most tasks.
The binaural advantages afforded to typically developing children, such as enhanced hearing sensitivity in noise, were not as robust for children with Down syndrome in this study. Children with Down syndrome experienced less binaural benefit than typically developing peers for some stimuli, suggesting that they could require more favorable signal-to-noise ratios to achieve optimal performance in some adverse listening conditions. The reduced release from masking observed for children with Down syndrome could represent a delay in ability rather than a deficit that persists into adulthood. This could have implications for the planning of interventions for individuals with Down syndrome.
Reviewing large-scale, population-based studies, this chapter summarizes three health outcomes for young children with Down syndrome: (1) adverse birth outcomes (e.g., prematurity, low birthweight); (2) in-patient hospitalizations; and (3) early mortality. Prematurity and low birthweight occur several times more often among newborns with (vs. without) Down syndrome, and account for 14–25% of all newborns with the syndrome. From 1/2 to 3/4 of these infants experience nonbirth hospitalizations within their first 3 years, most beginning during their first year. Those infants with congenital heart defects experience hospitalization more often, earlier, and for longer periods; respiratory problems constitute the main reason for hospitalizations among children with (and without) heart defects. Newborns with Down syndrome die before their first birthday from 4 to 24 times more often than other newborns; congenital heart defects, African American mothers, and prematurity are the major risk factors. Future studies need to identify child, parent, and family risk factors for early health outcomes, tie health outcomes to medical services, and determine the influence on early health of pollution and other environments. Better data and data-linkage are also needed. With an expanded research base, physicians will be able to provide more precise anticipatory guidance to parents, early interventionists, and others who care for young children with Down syndrome.
Down syndrome (DS) is the most common cause of mental retardation in North America, yet little information is available on the natural history of DS in adults. We report on significant medical problems of adults with DS (DS adults) residing in a British Columbia provincial residential center, Woodlands, over the 12‐year period from 1981 through 1992. Prospective, yearly health care reviews on 38 DS adults are summarized according to age. Group 1 consists of 18 middle‐aged DS adults less than 50 years old, and group 2 comprises 20 elderly DS adults 50 years and older. Significant health problems in all DS adults include untreated congenital heart anomalies (15.8%), acquired cardiac disease (15.8%), pulmonary hypertension (7.8%), recurrent respiratory infections/aspiration leading to chronic pulmonary interstitial changes (30%), complications from presenile dementia/Alzheimer‐type disease (42%), adult‐onset epilepsy (36.8%), osteoarthritic degeneration of the spine (31.6%), osteoporosis with resultant fractures of the long bones (55%) or vertebral bodies (30%), and untreated atlantooccipital instability (7.9%). Acquired sensory deficits are significant problems including loss of vision due to early onset of adult cataracts (50%), recurrent keratitis (21%) or keratoconus (15.8%), and significant hearing loss (25%). Behavioral problems (50%), loss of cognitive abilities, and onset of symptoms of Alzheimer disease (group 1: 5.5%; group 2: 75%) pose ongoing challenges for care. In conclusion, the quality of life for adults with DS can be improved by routine, systematic health care screening to identify treatable diseases that may be missed because of poor communication or confusion due to Alzheimer disease. Am. J. Med. Gent. (Semin Med. Genet.) 89:100–110, 1999. © 1999 Wiley‐Liss, Inc.
To facilitate the diagnosis of dementia in persons with intellectual disabilities (ID), based on observations of caregivers, since 1980 the Dementie Vragenlijst voor Zwakzinnigen (DVZ) has been developed by Heleen Evenhuis, ID physician, and Margeen Kengen and Harry Eurlings, behavioral therapists, all working in De Bruggen center for people with ID, Zwammerdam, the Netherlands [1]. The Dementia Questionnaire for People with Learning Disabilities (DLD) is an English translation of this instrument. Formally known as the Dementia Questionnaire for Mentally Retarded Persons (DMR). After many years of distribution through De Bruggen, its publication has now been taken over by Harcourt Test Publishers [2]. In this chapter, we review the development of the DMR (DLD) along with its clinical applications.
Diagnosis and Management of Adult Congenital Heart Disease, by Drs. Gatzoulis, Webb, and Daubeney, is a practical, one-stop resource designed to help you manage the unique challenges of treating long-term adult survivors of congenital heart disease. Authored by internationally known leaders in the field, this edition is the first that truly integrates anatomy and imaging technology into clinical practice, and includes new chapters on cardiac CT for ACHD assessment, critical and perioperative care, anesthesia for ACHD surgery, cardiac resynchronization therapy, and transition of care. Congenital defects are presented with high-quality illustrations and appropriate imaging modalities. Easy access to the complete contents and image library can be found at expertconsult.com. Find all the information you need in one user-friendly resource that integrates anatomy, clinical signs, and therapeutic options.Confidently make decisions aided by specific recommendations about the benefits and risks of surgeries, catheter interventions, and drug therapy for difficult clinical problems.Recognize and diagnose morphologic disorders with the help of detailed, full-color diagrams.Quickly find what you need thanks to easily accessible, consistently organized chapters and key annotated references. Keep pace with the latest advancements including five new chapters on cardiac CT for ACHD assessment, critical and perioperative care, anesthesia for ACHD surgery, cardiac resynchronization therapy, and transition of care.Comply with the latest American College of Cardiology (ACC) and European Society of Cardiology (ESC) practice guidelines - integrated throughout the book - for cardiac pacing and cardiac resynchronization therapy.Access the book from any computer at expertconsult.com, complete with the full text and entire image library.See imaging findings as they appear in practice and discern subtle nuances thanks to new, high-quality images and illustrations.Integrates anatomy, clinical signs and therapeutic options of congenital heart disease both in print and online!.
Presenilin-1 (PS-1 ) intronic polymorphism is claimed to be a risk factor for Alzheimer's disease (AD). The effect of PS-1 polymorphism on AD neuropathology of adults with Down's syndrome (DS) was studied by genotyping 26 demented and 36 non-demented DS adults and comparing these findings with those of two non-mentally retarded control groups (young and elderly). A total of 30.8% of the demented and 38.9% of the non-demented DS adults were homozygousforallele 1. Frequencies for the 1 -1 genotype in young and elderly controls were respectively 36.9% and 27.7%. No statistically significant differences were found in either allelic or genotypic distributions of the PS-1 polymorphism between demented and non-demented DS adults and the control groups.
The apolipoprotein E type 4 allele (APOE-epsilon 4) is genetically associated with the common late onset familial and sporadic forms of Alzheimer's disease (AD). Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE-epsilon 4 alleles in 42 families with late onset AD. Thus APOE-epsilon 4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE-epsilon 4 was virtually sufficient to cause AD by age 80.
Mongolism, like acromegaly, exophthalmic goiter, cretinism and many other diseases deeply affecting the personality of its victims, may be diagnosed clinically at a glance. This fact gave rise to its quick recognition throughout the world after the name was coined by Langdon-Down¹ in 1866, and the literature became flooded with case reports and general articles on the subject. These, however, dealt with it largely from the clinical, statistical, sociologic and etiologic points of view.
The pathologic anatomy has received much less attention. This is especially true of the finer histology of the nervous system, and individual studies directed toward this point have usually been made on relatively few cases; moreover, the observations of various authors have often been contradictory.
The present report is based on a study of the brains from ten patients with mongolism found in the collection of the Staatskrankenanstalt-Friedrichsberg in Hamburg, and has been made possible
Patients are not isolated individuals, but have friends and families who care about them and, often, care for them. This is especially true for children. Parents' well-being and quality of life is likely to be affected by the illness of their child, especially when the illness is severe, even if they do not provide informal care. This chapter deals with the inclusion of the costs and effects on caregivers and other family members in economic evaluations, with a focus on informal care. Key topics are illustrated using data from previous studies. In the first part of the chapter, the burden of providing informal care to children and its valuation for economic evaluations is described. Next, attention is turned to family effects. Finally, recommendations and conclusions are provided for incorporating caregiver and family effects in economic evaluations of child health.