A Study of Triplet-Primed PCR for Identification of CAG Repeat Expansion in the HTT Gene in a Cohort of 503 Indian Cases with Huntington’s Disease Symptoms

Chheda, Pratiksha; Chanekar, Milind; Salunkhe, Yogita; Dama, Tavisha; Pais, Anurita; Pande, Shailesh; Bendre, Rajesh; Shah, Nilesh

doi:10.1007/s40291-018-0327-y

Cited by 8 publications

(6 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A conservative estimate of about 75,000 HD patients in India [10,14] would indicate almost a million at risk. There is an urgent need to develop organized services for HD, and perhaps the entire range of adult-onset neurodegenerative conditions.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington’s disease

et al. 2020

View full text Add to dashboard Cite

Background: Huntington's disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent 'incurability' often deters symptomatic and rehabilitative care, resulting in poor quality of life and sub-optimal outcomes. There are no studies assessing disease burden and outcomes from India. Methods: We attempted to evaluate individuals diagnosed to have HD at our tertiary-care center between 2013 and 2016 for clinical symptoms, functionality, mortality, follow up status through a structured interview, clinical data from medical records and UHDRS-TFC scoring. Results: Of the 144 patients, 25% were untraceable, and another 17 (11.8%) had already died. Mean age at death and duration of illness at the time of death, were 53 years and 7 years respectively, perhaps due to suicides and other comorbidities at an early age. The patients who could be contacted (n = 81) were assessed for morbidity and total functional capacity (TFC). Mean CAG repeat length and TFC score were 44.2 and 7.5 respectively. Most individuals (66%) were in TFC stage I and II and could perhaps benefit from several interventions. The TFC score correlated inversely with duration of illness (p < 0.0001). The majority were being taken care of at home, irrespective of the physical and mental disability. There was a high prevalence of psychiatric morbidity (91%) including suicidal tendency (22%). Three of the 17 who died had committed suicide, and several other families reported suicidal history in other family members. Only about half the patients (57%) maintained a regular clinical follow-up. Conclusions: This study demonstrates the poor follow-up rates, significant suicidality and other psychiatric symptoms, sub-optimal survival durations and functional outcomes highlighting the need for holistic care for the majority who appear to be amenable to interventions.

show abstract

Section: Discussionmentioning

confidence: 99%

“…In India, HD is still under-recognized and underreported. Though several reports have been published [8][9][10][11][12][13], the exact prevalence is difficult to estimate. An increase in the number of HD cases is being noted lately, with wider availability of genetic diagnostics.…”

Section: Introductionmentioning

confidence: 99%

Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington’s disease

et al. 2020

View full text Add to dashboard Cite

show abstract

“…A conservative estimate of about 75,000 HD patients in India (10,14) would indicate almost a million at risk. As about a quarter of the patients eligible for the study could not be contacted, this data possibly under-represents the overall morbidity and mortality.…”

Section: Discussionmentioning

confidence: 99%

“…In India, HD is still under-recognized and under-reported. Though several reports have been published (8)(9)(10)(11)(12)(13), the exact prevalence is difficult to estimate. An increase in the number of HD cases is being noted lately, with wider availability of genetic diagnostics.…”

Section: Introductionmentioning

confidence: 99%

Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington's disease

Ratna

Kamble

Sowmya

et al. 2019

Preprint

View full text Add to dashboard Cite

BACKGROUND: Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ often deters symptomatic and rehabilitative care, resulting in poor quality of life and sub-optimal outcomes. There are no studies assessing disease burden and outcomes from India. METHODS: We attempted to evaluate individuals diagnosed to have HD at our tertiary-care center between 2013 and 2016 for clinical symptoms, functionality, mortality, follow up status through a structured interview, clinical data from medical records & UHDRS TFC scoring. RESULTS: Of the 144 patients, 25% were untraceable, and another 17 (11.8%) had already died. Mean age at and duration of illness at the time of death, were 53 years and 7 years respectively, which is much shorter than in Europe and USA. The patients who could be contacted (n=81) were assessed for symptomatic morbidity and total functional capacity (TFC). Mean CAG repeat length and TFC score were 44.2 and 7.5 respectively. Most individuals (66%) were in TFC stage I and II and could perhaps benefit from several interventions. The TFC score correlated inversely with duration of illness (p<0.0001). The vast majority were being taken care of at home, irrespective of the physical and mental disability. There was a high prevalence of psychiatric morbidity (91%) including suicidal tendency (22%). Three of the 17 who died had committed suicide, and many other families reported suicidal history in other family members. Only about half the patients (57%) maintained a regular clinical follow-up. CONCLUSIONS: This study demonstrates the poor follow-up rates, significant suicidality & other psychiatric symptoms, suboptimal survival durations and functional outcomes highlighting the need for holistic care for the majority who appear to be amenable for interventions.

show abstract

“…In India, HD is still under-recognized and under-reported. Though several reports have been published [8][9][10][11][12][13], the exact prevalence is difficult to estimate. An increase in the number of HD cases is being noted lately, with wider availability of genetic diagnostics.…”

Section: Introductionmentioning

confidence: 99%

Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington's disease

Ratna

Kamble

Sowmya

et al. 2019

Preprint

View full text Add to dashboard Cite

BACKGROUND: Huntington’s disease (HD), an inherited, often late-onset, neurodegenerative disorder, is considered to be a rare, orphan disease. Research into its genetic correlates and services for those affected are inadequate in most low-middle income countries, including India. The apparent ‘incurability’ often deters symptomatic and rehabilitative care, resulting in poor quality of life and sub-optimal outcomes. There are no studies assessing disease burden and outcomes from India. METHODS: We attempted to evaluate individuals diagnosed to have HD at our tertiary-care center between 2013 and 2016 for clinical symptoms, functionality, mortality, follow up status through a structured interview, clinical data from medical records & UHDRS TFC scoring. RESULTS: Of the 144 patients, 25% were untraceable, and another 17 (11.8%) had already died. Mean age at death and duration of illness at the time of death, were 53 years and 7 years respectively, perhaps due to suicides and other comorbidities at an early agewhich is much shorter than in Europe and USA. The patients who could be contacted (n=81) were assessed for morbid symptoms and total functional capacity (TFC). Mean CAG repeat length and TFC score were 44.2 and 7.5 respectively. Most individuals (66%) were in TFC stage I and II and could perhaps benefit from several interventions. The TFC score correlated inversely with duration of illness (p<0.0001). The vast majority were being taken care of at home, irrespective of the physical and mental disability. There was a high prevalence of psychiatric morbidity (91%) including suicidal tendency (22%). Three of the 17 who died had committed suicide, and many other families reported suicidal history in other family members. Only about half the patients (57%) maintained a regular clinical follow-up. CONCLUSIONS: This study demonstrates the poor follow-up rates, significant suicidality & other psychiatric symptoms, suboptimal survival durations and functional outcomes highlighting the need for holistic care for the majority who appear to be amenable for interventions.

show abstract

A Study of Triplet-Primed PCR for Identification of CAG Repeat Expansion in the HTT Gene in a Cohort of 503 Indian Cases with Huntington’s Disease Symptoms

Abstract: Our study on pan-Indian cases is one of the largest studies reported so far in India and focuses on the most accurate and comprehensive molecular diagnostic evaluation of HD.

Cited by 8 publications

References 26 publications

Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington’s disease

Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington’s disease

Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington's disease

Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington's disease

Contact Info

Product

Resources

About