Management of speech, Language and Communication Difficulties in Huntington’s Disease

Hamilton, Alison B.; Ferm, Ulrika; Heemskerk, Anne‐Wil; Twiston-Davies, Rita; Matheson, Kirsty; S, Simpson; Rae, D. O.

doi:10.2217/nmt.11.78

Cited by 39 publications

(36 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The protein encoded by the HTT gene plays a role in the normal development of the brain and neurons. The expanded CAG sequence leads to the production of an abnormal protein that causes brain cell dysfunction and ultimately neuronal cell death primarily in the basal ganglia, but also the thalamus and cerebral cortex [62] .…”

Section: Hyperkinetic Dysarthriamentioning

confidence: 99%

Genomics of Speech and Language Disorders

Guerra¹,

Cacabelos²

2018

Preprint

View full text Add to dashboard Cite

There are multiple factors involved in speech and language. Investigating animal models, mainly through songbirds, have allowed a better understanding of the language process. Verbal dyspraxia, dysarthria, speech sound disorder, and stuttering are some examples of speech disorders, and specific language disorder, aphasia and, dyslexia of language disorders. More complex syndromes such as Autism-spectrum disorders, Down’s or Fragile X have more variable features. Genetic factors, such as hereditary or de novo mutations may be responsible for their development. In addition, most of them are involved in neurodevelopment with a huge range of molecular mechanisms and pathways that interact with each other, and there may be co-morbidity with other communication disorders or develop phenotypes unrelated to communication. Genes with heterogeneous functions in speech and language such as FOXP1, FOXP2, KIAA0319, ROBO1, APOE or CNTNAP2 are some examples. Epigenetic factors, especially miRNAs, influence their expressiveness. The genomics of these disorders allows us to understand language acquisition, carry out early detection strategies, genetic counseling and optimize future treatments, not only in communication disorders but also those neurological alterations that incorporate these mutations.

show abstract

Section: Hyperkinetic Dysarthriamentioning

confidence: 99%

Genomics of Speech and Language Disorders

Guerra¹,

Cacabelos²

2018

Preprint

View full text Add to dashboard Cite

show abstract

Section: Logopädieunclassified

“…Fokus einer logopädischen Behandlung sind sowohl die Dysarthrie [49] als auch die Dysphagie [50,51]. Schon in Frühstadien kann eine milde Dysarthrie auftreten, die mit zunehmendem Verlauf in eine schwere Kommunikationsstörung einmündet [49]. Als Interventionen kommen Entspannungstechniken, Stimm-und Artikulationsübungen, Selbstbeobachtung des Sprechakts, Übungen unter Stress und Atemübungen infrage [49].…”

Section: Logopädieunclassified

“…Schon in Frühstadien kann eine milde Dysarthrie auftreten, die mit zunehmendem Verlauf in eine schwere Kommunikationsstörung einmündet [49]. Als Interventionen kommen Entspannungstechniken, Stimm-und Artikulationsübungen, Selbstbeobachtung des Sprechakts, Übungen unter Stress und Atemübungen infrage [49]. Bei HD können alle Phasen des Schluckakts (Vorbereitung, orale, pharyngeale und ösophageale Phase) gestört sein [51].…”

Section: Logopädieunclassified

See 1 more Smart Citation

Rehabilitative Therapien bei Morbus Huntington

Rollnik¹

2015

Fortschr Neurol Psychiatr

View full text Add to dashboard Cite

Huntington's disease (HD) is a chronic neurodegenerative disease for which as yet no disease-modifying therapy is available. Even at the early stage of the disease, HD patients suffer from motor and cognitive impairments. They are in need of physical, occupational and speech therapy or (inpatient) multidisciplinary rehabilitation. This paper reviews the available evidence for the usefulness of these therapeutic interventions. Studies using HD animal models have shown that motor training per se or as part of an enriched environment setting may have a positive impact on disease onset and progression. There are four clinical randomized controlled trials (RCT) showing beneficial effects of physical therapy (standardized home-based training program). In particular, inpatient neurological rehabilitation may have positive effects on activities of daily living (ADL) in HD patients. A non-controlled trial on multidisciplinary rehabilitation showed a reduction of oxidative stress and associated neurodegeneration, with another study even demonstrating an increase in the volume of the right caudate and the dorsolateral prefrontal cortex. Among the studies focusing on multidisciplinary rehabilitation, there is only one RCT. Further controlled studies are needed.

show abstract

“…Specialist speech and language therapists, experienced in managing HD and guided by evidence-based guidelines (Hamilton et al, 2012a;Hamilton et al, 2012b) are best placed to distinguish between behavioural and mechanical dysphagia. Guidelines are now also available for dietetic input in early HD (Brotherton et al, 2012); in our experience, it frequently falls to the HD specialist team to educate patients, families and primary care teams about the need for dietary assessment and supplementation.…”

Section: Management Considerationsmentioning

confidence: 99%

Premanifest and Early Huntington’s Disease

Wild¹,

Tabrizi²

2014

Oxford Medicine Online

View full text Add to dashboard Cite

The traditional view that individuals carrying an expanded Huntington’s disease (HD) gene undergo phenoconversion, a stochastic event that takes them from symptom-free to symptomatic, is now disputed among clinicians, HD researchers, and patient and family advocates. Disease onset is officially declared when neurologic abnormalities that are unequivocally due to HD are diagnosed, but subjective symptoms and objective signs emerge gradually, and it is more helpful to consider and openly discuss a prodromal period, often as long as 10 years, which can provide a helpful framework for discussion and management. Considerable progress has been made in defining the neurobiologic processes that underlie the development of HD in humans and measures that can predict this for the purpose of conducting clinical trials, but these measures have not yet been validated sufficiently to make them useful in the clinical setting. This chapter discusses the multidisciplinary care of patients with premanifest, prodromal, and early manifest HD.

show abstract

Management of speech, Language and Communication Difficulties in Huntington’s Disease

Cited by 39 publications

References 23 publications

Genomics of Speech and Language Disorders

Genomics of Speech and Language Disorders

Rehabilitative Therapien bei Morbus Huntington

Premanifest and Early Huntington’s Disease

Contact Info

Product

Resources

About