Coffin-Lowry Syndrome
Andres Schmidt
Biology
Period- I
05/21/13
Coffin-Lowry Syndrome (CLS)
Coffin-Lowy Syndrome
Definition: Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and
which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.
Grange S. Coffin in 1966 discovered this syndrome, in the University of Columbia New York
United States of America.
Grange S. Coffin
Grange S. Coffin
Born January 18, 1923, Kinston, North Carolina. Grange S.
Coffin qualified in medicine at Columbia University, New
York, in 1947, where he specialized as a pediatrician.
He was married with two children, he lived in north Carolina, and …show more content…
People with CLS should be provided with opportunities to develop communication skills and to participate in activities and self-care in order to develop a degree of independence.
There are not to many medicines but there is been trials with antiepileptic drugs and
Benzodiazapine.
Use of a wheelchair may be required to prevent falling and injuries.
Story
Cristin Lind has two children, one of them named Gabriel, who has coffin-
lowry syndrome Gabe was born without any obvious symptoms, but within six months Lind and her husband, Dan, learned he had a congenital cardiac abnormality and muscle weakness. Over time, more symptoms appeared, but it wasn't clear what he had. In 2010 she sold her business and decided to take the year off to focus full-time on Gabe’s needs. During this time, Lind hired a personal care attendant; worked with a special education consultant, a lawyer, and specialists to get Gabe placed in an out-of-district special education school; and joined advocacy organizations and a support group.
She joined the Collaborative CHIPRA Team as a Parent Partner after …show more content…
“I know for myself that I do a better job of advocating for my son who has special needs and my daughter who doesn’t, when I learn as much as I can about what’s happening in healthcare, pediatric healthcare, disability rights, and special needs advocacy.”
Story part 2
Eventually Gabe’s day-to-day activities became more settled and his mom
felt ready to return to work part-time. By then it was obvious that she was really interested in working for families and children with special needs, but she didn’t know exactly how.
Organizations
Coffin-Lowry Syndrome Foundation
http://clsf.info/
The purpose of CLSF is to provide a clearinghouse for information on
Coffin-Lowry Syndrome (CLS), and to provide families affected by CLS a general forum in which to exchange information, ideas and advice.
National Institute of Mental Help
http://www.nimh.nih.gov/index.shtml
The purpose of this organization is to do research to help people understand
mental illness cause by genetic disorders.
Organizations part 2
National Organization of Rare Disorders
http://www.rarediseases.org/
NORD provides information about rare diseases and related resources
Biology
Period- I
05/21/13
Coffin-Lowry Syndrome (CLS)
Coffin-Lowy Syndrome
Definition: Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and
which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.
Grange S. Coffin in 1966 discovered this syndrome, in the University of Columbia New York
United States of America.
Grange S. Coffin
Grange S. Coffin
Born January 18, 1923, Kinston, North Carolina. Grange S.
Coffin qualified in medicine at Columbia University, New
York, in 1947, where he specialized as a pediatrician.
He was married with two children, he lived in north Carolina, and …show more content…
People with CLS should be provided with opportunities to develop communication skills and to participate in activities and self-care in order to develop a degree of independence.
There are not to many medicines but there is been trials with antiepileptic drugs and
Benzodiazapine.
Use of a wheelchair may be required to prevent falling and injuries.
Story
Cristin Lind has two children, one of them named Gabriel, who has coffin-
lowry syndrome Gabe was born without any obvious symptoms, but within six months Lind and her husband, Dan, learned he had a congenital cardiac abnormality and muscle weakness. Over time, more symptoms appeared, but it wasn't clear what he had. In 2010 she sold her business and decided to take the year off to focus full-time on Gabe’s needs. During this time, Lind hired a personal care attendant; worked with a special education consultant, a lawyer, and specialists to get Gabe placed in an out-of-district special education school; and joined advocacy organizations and a support group.
She joined the Collaborative CHIPRA Team as a Parent Partner after …show more content…
“I know for myself that I do a better job of advocating for my son who has special needs and my daughter who doesn’t, when I learn as much as I can about what’s happening in healthcare, pediatric healthcare, disability rights, and special needs advocacy.”
Story part 2
Eventually Gabe’s day-to-day activities became more settled and his mom
felt ready to return to work part-time. By then it was obvious that she was really interested in working for families and children with special needs, but she didn’t know exactly how.
Organizations
Coffin-Lowry Syndrome Foundation
http://clsf.info/
The purpose of CLSF is to provide a clearinghouse for information on
Coffin-Lowry Syndrome (CLS), and to provide families affected by CLS a general forum in which to exchange information, ideas and advice.
National Institute of Mental Help
http://www.nimh.nih.gov/index.shtml
The purpose of this organization is to do research to help people understand
mental illness cause by genetic disorders.
Organizations part 2
National Organization of Rare Disorders
http://www.rarediseases.org/
NORD provides information about rare diseases and related resources