Early Intervention Support
BreadCrumbError: Unable to find a matching node for the site map (~/Configuration/SiteMap.xml) for page uri (~/diagnosis/list/congenital-glycosylation.aspx).

Diagnosis for Children with Special Needs

Early Childhood Intervention

This website is a place for families who are facing challenges pertaining to their child's development and growth.

It is a place to find answers and practical suggestions. That's what Early Intervention Support is all about.

Whether a family has a child with a challenging behavior, a disability or developmental issue, childhood is short - it should be savored and enjoyed.

Learn More:

Ask a Therapist

Group of Therapists

We understand developmental milestones and the challenges of Special Needs children.  We spend a great deal of time with families understanding the inner workings of childhood routines and interactions.  Ask us about your child today!
 
Ask a Therapist

Contact Information

Mother & Baby 

Find Early Intervention Support contacts in your State.  If you have a question or comment for us, please visit our Contact page.

Congenital Disorders of Glycosylation

 

Back to Full List of Diagnosis

The CDG disorders are a group of newly discovered metabolic diseases called Congenital Disorders of Glycosylation.
 
CDG disorders cause abnormal tissue and organ development affecting the entire body, especially the function of the central and peripheral nervous system.
 
Congenital Disorders of Glycosylation is a recessively inherited disease, meaning that a child with CDG has inherited two non-working genes, one from each parent. Currently, there are just 500 cases identified in the world.

Signs and Symptoms of Congenital Disorders of Glycosylation (CDG)

The symptoms and severity of CDG vary from child to child. Some of the symptoms become more prominent at different ages. Early signs include:

  • Low muscle tone
  • Failure to thrive (slow growth)
  • Feeding difficulties
  • Developmental delay
  • Liver disease
  • Bleeding tendencies
  • Crossed eyes
  • Seizures
  • Cerebellar hypoplasia (changes in the area of the brain responsible for balance)

How are Congenital Disorders of Glycosylation Diagnosed?

Most Congenital Disorders of Glycosylation patients can be diagnosed by a simple blood test. Once CDG is diagnosed, further testing is required to determine the type of CDG. Currently, scientists have identified 20 different types of CDG.

Prognosis for Congenital Disorders of Glycosylation

Some children with Congenital Disorders of Glycosylation have serious, life-threatening medical problems during infancy. Individuals with CDG require expert medical care, often from multiple specialists.
 
Children and adults with CDG have varying degrees of disability, including cognitive impairment, speech difficulties, and poor balance and motor skills. However, many are conversational, with speech impairment, and have very charming personalities. Most use wheelchairs or walkers for mobility. Some live at home, while others are in assisted-living settings.
 
Although there is no current treatment for children with Congenital Disorders of Glycosylation, early physical, speech, and occupational therapies are important for them so that they can develop to their fullest potential.

Where can I Get More Information?

United Cerebral Palsy (UCP)
The CDG Family Network
Attn: Cynthia Wren-Gray, President
P.O. Box 860847
Plano, Texas 75074
Tel: 800-250-5273
E-mail cdgaware@aol.com
Website www.cdgs.com

Back to Full List of Diagnosis

 

Learn More About Early Intervention

Therapy Options

Thankfully, there are many ways to deal with childhood developmental delays and behaviors. These include in-home services, outpatient (you take your child to a clinic), inpatient (following injury or surgery) and school based services. Which type of therapy should you choose?

Visit our Therapy Options area to learn more.

 

Return to Top