Stress, emotions, 2 abstracts and links

[Guest guest]

,

Below are 2 abstracts referring to CMT and stress. In addition, here

are some links about stress and health, also stress management.

~ Gretchen

http://www.aboutibs.org/Publications/stress.html

http://www.stressdoc.com/top_ten.htm

http://www.womenfitness.net/top10_dealing_with_stress.htm

http://www.medicalnewstoday.com/medicalnews.php?newsid=36791

J Genet Couns. 2005 Aug;14(4):307-18.

Psychosocial issues that face patients with Charcot-Marie-Tooth

disease: the role of genetic counseling.

Arnold A, McEntagart M, Younger DS.

Royal Free Hospital, 8th Floor Oncology Suite, Pond Street, London,

NW3 2QG.

Charcot-Marie-Tooth (CMT) disease is a hereditary debilitating

progressive muscular atrophy and sensory neuropathy of the distal

extremities. CMT is usually non-life threatening. Signs of the

disease usually present in childhood or in young adulthood and the

level of disability can be variable within and between families.

Research addressing specific psychosocial and emotional issues faced

by individuals with CMT is limited. Fourteen adults with a clinical

and/or molecular diagnosis of CMT (ages 32--74 years) consented to an

audio taped interview. The format of the interview was based around

an informal questionnaire to prompt and guide the interviewee to

describe their experiences of living with a disabling genetic

disorder. The interviews focused on their experiences of first

symptoms and diagnosis, their life experience with CMT, their

limitations due to disability and the role of genetic counseling.

This study identifies and explores life issues that individuals with

CMT may face, specifically grief over the loss of independence,

emotional pain and stress such as embarrassment and guilt of passing

on a gene mutation, impact on quality of life, the impact of wearing

orthopedic devices, and fear of progressive disability. Our findings

suggest that that there are emotional and psychosocial issues

specific to affected individuals at different life stages and genetic

counselors need to be aware of these issues in order to provide age

appropriate support and advice to individuals affected by CMT.

J Neurol Neurosurg Psychiatry. 2001 Apr;70(4):548-50.

Disability and quality of life in Charcot-Marie-Tooth disease type 1.

Pfeiffer G, Wicklein EM, Ratusinski T, Schmitt L, Kunze K.

Department of Neurology, University Hospital Eppendorf,

istrasse 52, 20246 Hamburg, Germany. pfeiffer@...

OBJECTIVES: Charcot-Marie-Tooth disease type I (CMT1) is a hereditary

sensorimotor neuropathy causing variable degrees of handicap. The

risk for relevant disability in respect to genetic counselling is

unknown. An attempt was made to define it.

METHODS: Disability and ambulation of 50 patients with CMT1 were

scored by the Hauser ambulation index score and the Rankin scale.

Rankin score 2 was subdivided into 2a (independent without relevant

slowness) and 2b (independent, though at the cost of excessive time

consumption). The sickness impact profile was assessed and compared

with patients 6 months after stroke who were without mental deficit.

To define at which degree sickness and disability become relevant for

genetic counselling, the patients were asked whether they would

refrain from childbearing if the children were at risk of inheriting

a disease that caused as much disability as they experienced

themselves.

RESULTS: Subdivision of Rankin score 2 was reliable and improved

validity. High disability significantly predicted an attitude against

childbearing (stepwise logistic regression) only with this

subdivision. Thirty six per cent of the patients voted against

childbearing. The cut off for relevant disability in respect to

childbearing was a Rankin score higher than 2a, which was present in

44% of the patients. Psychosocial impact was comparable with patients

with stroke and similar disability. Depression was present in 18% of

the patients.

CONCLUSION: Subdivision of Rankin score 2 is recommended for the

assessment of longstanding disability in neuromuscular disorders.

Disability becomes relevant for the attitude towards childbearing as

soon as everyday activities become markedly slow (Rankin score 2b).

Relevant disability occurred in 44% of the patients. Emotional stress

in CMT is similar to that of patients with stroke and comparable

disability.