Low tone and hip problems

[Guest guest]

Thank you for the information. " W-sit " is a term I had heard and was the

reason the PT was questioning my son's hips. Also explains why he is always

trying to lay down. Tanis is a walker, runner, jumper, climber. However, at

times, it seems he loses his ability to even walk or balance. We have referrals

in for appointments and assessments. I am printing much of the information

that has been posted so that I have a resource or information basis of what I

need to at least ask about.

Thank you again.

Carolyn

Mother of Tanis 2 CHARGE and Denny 12 weeks.

[Guest guest]

Thank you for the information. " W-sit " is a term I had heard and was the

reason the PT was questioning my son's hips. Also explains why he is always

trying to lay down. Tanis is a walker, runner, jumper, climber. However, at

times, it seems he loses his ability to even walk or balance. We have referrals

in for appointments and assessments. I am printing much of the information

that has been posted so that I have a resource or information basis of what I

need to at least ask about.

Thank you again.

Carolyn

Mother of Tanis 2 CHARGE and Denny 12 weeks.

[Guest guest]

Thank you for the information. " W-sit " is a term I had heard and was the

reason the PT was questioning my son's hips. Also explains why he is always

trying to lay down. Tanis is a walker, runner, jumper, climber. However, at

times, it seems he loses his ability to even walk or balance. We have referrals

in for appointments and assessments. I am printing much of the information

that has been posted so that I have a resource or information basis of what I

need to at least ask about.

Thank you again.

Carolyn

Mother of Tanis 2 CHARGE and Denny 12 weeks.

[Guest guest]

From the list: " It is my impression that the hip problems in CHARGE

arise from low motor tone and muscle development Is this info in the

CHARGE manual? "

I don't think we specifically noted the connection between low tone and

hip problems in the Manual. In the Muscles and Bones section, we define

hypotonia. In the Multiple influences on development section, we

include hypotonia. And the PT section includes the importance of

evaluating tone. Keep in mind that I'm not an MD, PT, or orthopedist,

just a genetic counselor who has spent 20 years on CHARGE. What we knew

enough about ot include in the Manual was that kids with CHARGE nearly

always are hypotonic - especially in the trunk. This affects posture

(and scoliosis) and stamina (it's tiring to fight to sit up all the

time). What we have noticed, but probably didn't put anywhere specific,

is that most kids with CHARGE have ligamentous laxity - loose joints.

So many photos you see (including Aubrie in Houston) show the kids in

the " W-sit " position - you can only do that if your hip and knee

ligaments are loose.

Clearly there are generalized connective tissue issues in CHARGE - the

floppy eras, floppy trachea, and loose joints are probably all part of

that. We don't have lots of hard evidence, but know it is an issue.

Despite the Manual being nearly 300 pages, there is still lots missing.

That is part of why the list is so important. I try to save batches of

messages form the list to help define " new " problems and the solutions

people come up with. Eventually we will provide more supplements for

the Manual, but I'm too busy to do that just now (anyone want to help?)

Meg

Meg Hefner, MS

Genetic Counselor and Clinical Associate Professor of Pediatrics

St. Louis, MO