Hypotonia ataxia and delayed development syndrome (HADDS)
Children's Health℠ brings together multiple specialists to care for children with hypotonia, ataxia and delayed development syndrome (HADDS). From physical therapists to experts in brain development, we work together as a team to help your child and family build the strongest future possible.
Our team began exploring HADDS when it was first defined as a condition in 2016. We’re actively involved in research and education for families and the medical community about this complex disorder.
What is hypotonia, ataxia, and delayed development syndrome (HADDS)?
HADDS is a neurological (brain and nervous system) condition that affects a range of physical features and abilities. Children with HADDS are born with differences in their brain that affect how their bodies develop and work.
Children with HADDS may need special care throughout their lives.
- Some require help with daily activities, such as dressing and mobility.
- Some may require medicine or procedures to help them pee and poop, because certain muscles in their bladder and bowel don’t work properly. Helping them pee is especially important because if urine backs up into their kidneys (called hydronephrosis), it can cause infection and damage.
How is hypotonia, ataxia, and delayed development syndrome (HADDS) different from other syndromes?
HADDS can appear similar to other conditions, such as spina bifida, but many aspects make it distinct, such as:
- Lower spine - Imaging tests usually show nothing unusual about the lower spines of children with HADDS. In contrast, children with spina bifida have structural differences in the lower part of their spines.
- Bladder issues - Children with HADDS often have swollen bladders and difficulty urinating (peeing). However, children with spina bifida tend to develop small bladders and urinate frequently.
What are the signs and symptoms of hypotonia, ataxia, and delayed development syndrome (HADDS)?
Signs and symptoms that can occur with HADDS include:
- Low muscle tone (hypotonia)
- Poor muscle control (ataxia)
- Delays in motor, speech and/or cognitive (thinking) skills
- Little or no response to pain
- Vision problems
- Misaligned eyes or strabismus
HADDS may also lead to urinary and bowel problems such as:
- Urinary tract infections (UTIs)
- Vesicoureteral reflux (VUR)
- Difficulty having bowel movements or constipation
How is hypotonia, ataxia, and delayed development syndrome (HADDS) diagnosed?
First, your child’s doctor will perform a physical exam and talk to you about their symptoms and health history. The exam may include having your child walk across the room and do other movements so the doctor can evaluate their muscles and flexibility. Your doctor may order tests to get more information and rule out other conditions.
These tests may include:
- Blood tests are an important way to see how well the kidneys, liver and other organs are functioning.
- Magnetic resonance imaging (MRI) - An MRI is an imaging test that uses magnetic fields and radio waves to create pictures of the inside of the body. For HADDS, our specialists use MRI to evaluate a child’s spine and rule out other conditions.
- Genetic testing - Our team can confirm a diagnosis of HADDs using genetic testing. To do the test, we’ll take a small sample of your child’s blood and send it to a lab. Our genetic specialists and lab use the latest technology to get fast, accurate results. We also have genetic counselors and social workers who can help you and your child make health care decisions based on the diagnosis.
What causes hypotonia, ataxia, and delayed development syndrome (HADDS)?
HADDS results from a mutation (change) in a gene called EBF3. It’s unclear what causes these gene mutations, and the changes can cause symptoms ranging from mild to severe.
The mutation affects how a child’s brain and body develop in the womb. One example is the sphincter muscles that open and close to let pee and poop out of the body. With HADDS, the sphincters are extra tight and don’t open easily. As a result, it’s harder for children to pee and poop, and they may need treatment to help.
How is hypotonia, ataxia, and delayed development syndrome (HADDS) treated?
Treatment for HADDS varies depending on the symptoms and needs of each child. Although HADDS is a lifelong condition, early diagnosis and treatment can make a big difference in a child’s life. The right care from the start can greatly improve a child’s mental and mobility skills and help them avoid serious challenges of this condition. Building their skills and abilities when a child is young can help them manage their condition better in the future.
A child may receive care from multiple specialists, including:
- Neurologist - These doctors diagnose and treat conditions affecting the brain, spinal cord and nerves. Our neurologists provide overall care for children who have HADDS, including tests to monitor the brain and spine.
- Urologist - Urologists diagnose and treat conditions that affect the bladder, kidneys and other parts of the urinary tract. For HADDS, our urologists may recommend treatment to help children pee. Treatment may involve medication, a catheter (plastic tube) to drain urine from the bladder into a bag outside the body, or a procedure that lets the bladder empty urine through a hole in the abdomen (vesicostomy).
- Physiatrist - These doctors diagnose and treat conditions affecting the bones, joints and muscles. Children with HADDS often have tight leg muscles, so a physiatrist may recommend physical therapy or injections to help loosen them.
- Gastroenterologist - A gastroenterologist is a doctor who provides care for conditions affecting the digestive system, including the intestines. These experts can help children with HADDS who have trouble pooping. Treatment may include injections to relax muscles in the anus (end of the large intestine where poop exits the body).
- Occupational therapist - These specialists focus on the movements and tasks that are part of daily life, such as getting dressed and grasping toys and other objects. Our occupational therapists may provide exercises and lessons that help children with HADDS perform these tasks.
- Ophthalmologist - Ophthalmologists are doctors who diagnose eye diseases and provide medical and surgical treatment. Children with HADDS who have vision problems may receive testing or treatment from an ophthalmologist.
Hypotonia, ataxia, and delayed development syndrome (HADDS) doctors and providers
Our team includes some of the first providers in the country to see and treat HADDS firsthand. We use our expertise to provide complete care for your child and support for the whole family.
-
Irina Stanasel, MD Pediatric Urologist
Frequently Asked Questions
-
Is HADDS genetic?
Yes, HADDS results from a mutation (change) in the EBF3 gene, which controls several neurological and other developmental processes.
-
What is the EBF3 gene?
The EBF3 gene affects the development of certain aspects of a child’s brain and other body systems. In very rare cases, this gene can mutate (change), although researchers aren’t yet certain what causes these changes. These gene changes affect a child’s development and lead to HADDS and other EBF3-related disorders.
-
What experience does the Children's Health team have with HADDS?
At Children’s Health, we saw our first child with HADDS in 2017, a year after the disorder was defined. This experience helped us identify more children in the region and connect them with the unique care they need. Much of the medical research and community-building for HADDS come out of Texas, and our doctors play an active role in those efforts.
-
Why is urinary care important in HADDS?
People with HADDS often have difficulty completely emptying their bladders. Urine (pee) can build up so much that it flows backward and collects in the kidney. Urine buildup in the kidneys can cause infections and damage that, over time, may prevent the kidneys from working properly and risk kidney failure.
-
How many people have HADDS?
The number of confirmed cases is quite low. But it’s sure to grow as more people become aware of the disorder and doctors everywhere get better at recognizing it.
