Noonan Syndrome (NS) is an autosomal dominant condition that many are not familiar with. It is a genetic condition characterized by distinctive facial features, short stature, chest deformity, congenital heart defects, pulmonary stenosis, and other comorbidities. Noonan Syndrome has an estimated prevalence of 1 in 1000 to 1 in 2500 live births. The phenotype of NS changes with age, becoming milder in the adult life.
Until recently, diagnosis was based solely on clinical findings, but genetic mutations are identifiable in approximately 61% of the patients.
The eponym “Noonan syndrome” was adopted in recognition of Dr. Jacqueline Noonan, as she was the first to indicate that this condition occurred in both genders, was associated with normal chromosomes, included congenital heart defects, and could be familial.
Facial and musculoskeletal features most often lead to the diagnosis of NS. The facial appearance is most characteristic in infancy & early to middle childhood and becomes subtle in adulthood. In the newborn infant, the head is large with a small face, a tall forehead, wide-spaced eyes, short nose, low set ears, and a broad or webbed neck.
A characteristic pectus deformity of the chest with pectus carinatum (protrusion of sternum and ribs) superiorly and pectus excavatum (hollow chest) inferiorly is seen in most. Spinal abnormalities may be seen such as kyphosis (excessive rounding of the back), scoliosis, rounded shoulders, rib abnormalities, and genu valgum (knock knees).
Differential Diagnosis: Similarities and Differences Between NS and Other Disorders
More than 80% of patients with NS have an abnormality of the cardiovascular system. Common cardiac conditions associated with NS include pulmonary valve stenosis, atrial septal defect, and partial atrioventricular canal defect.
Neurologic, Cognitive, and Motor Issues
There is an increased incidence of cognitive, learning abilities, incidence of brain abnormalities, and a wide array of other neurologic issues. In a study of 151 subjects with NS, 76% had feeding difficulties, 94% had ocular problems, 50% had hypermobility of joints/hypotonia, 13% had recurrent seizures, 3% had hearing loss, and 3% had peripheral neuropathy.
Research has shown a general delay in the mean age of motor milestones for children with NS; sitting alone occurred at 10 months, walking occurred at 21 months, and speaking 2-word sentences occurred at 31 months. Most people with NS have normal intelligence, but 10% to 40% require special education.
Children with NS present with low muscle tone and may have a higher rate of clumsiness and coordination. Activities that require good eye hand coordination may be difficult. Children with NS typically reach their milestones slower when compared to their peers.
Physical Therapy Treatment for Noonan Syndrome
Early Intervention is crucial for a child diagnosed with Noonan Syndrome as they tend to be delayed in meeting motor milestones. The following exercises are to improve and maintain flexibility, endurance, strength, coordination, and balance in children diagnosed with Noonan Syndrome.
1) Sit-ups: Lie down on back, let child hold your fingers as they come up to a full sitting position. Repeat for 12 repetitions and a few times throughout the day. Make it fun by letting the child place a puzzle piece into a puzzle every time he/she sits-up.
2) Tall kneel: Place your child in a tall kneel position at the couch and let them play with their favorite toys placed on top of the couch for 5-10 minutes and a few times throughout the day. This is a great exercise for balance and core strength.
3) Sitting balance: Have your child sit criss-cross on a balance disc as you read books or play puzzles. This is a great activity for core balance, strength, and body awareness.
4) Sit to stand from step stool: This is a great leg strengthening activity. Place the step stool close to a higher support surface. Place a toy on top of the couch and have your child pull up to the couch from the sitting position. Repeat 10 times to strengthen your legs.
5) Stepping over obstacles: Balance is challenging for children with Noonan syndrome so it’s important to practice stepping over obstacles. A great activity is placing pool noodles on the floor and practicing stepping over the noodles with one hand or two hand held assistance.
6) Crawling over pillows: Place 4-5 pillows in a row on the floor and have your child crawl across the pillows to reach a toy. You can also place a tunnel on top of the pillows to make it more fun for the child. This is a great overall strengthening and motor planning activity.
7) Stair negotiation skills: This is so important to practice with children diagnosed with Noonan Syndrome. These children have a hard time alternating their feet on the stairs secondary to poor balance and short stature. Place the foot prints on the stairs and encourage your child to step onto each footprint in an alternating pattern; give them tactile cues as well for proper foot placement by standing behind them and guiding their foot up to the next step. Check out our tips & tricks for stair climbing post to get more information.
8) Therapy ball: Have your child lie on their back over the ball, reach back for a puzzle piece, and come up to a sitting position. Then have your child lie on their belly over the therapy ball, get a good grip on their waist, roll the ball forward, let them pick up pieces to a game or puzzle, roll the ball back and have them place the piece into the game/puzzle. Both of these are great core strengthening exercises. Try and get 10 repetitions in both directions.
1. Have the child lie on their back and passively perform bicycle kicks while singing the alphabet or itsy bitsy spider (approximately 30 seconds) to help strengthen the legs for balance. Click here to watch a video on how to perform bicycle kicks with your child.
2. Practice standing or walking on different surfaces (barefoot on hard wood floor, barefoot on pillows, barefoot on balance disc, shoes on grass, shoes on wood chips at the playground).
3. Have the child lie on their back as you massage the bottom of their feet for proprioceptive input; which will help with independent walking and balance on the stairs.
4. Joint Compressions: Perform at the knee and ankle joint to help the child be aware of those joints; which will help with independent standing/walking, body awareness, and balance on various surfaces.
Hold above and below the joints (as shown below), gently push in with your hands together briefly and then release. Repeat 10 times at the knee joint and then the ankle joint.
Romano, Alicia, Allanson, Judith et al. Noonan Syndrome: Clinical features, Diagnosis, and Management Guidelines. Pediatrics: Official Journal Of the American Academy of Pediatrics. 2010.
Noonan JA, Ehmke DA. Associated noncardiac malformations in children with congenital heart disease. J Pediatr. 1963;31: 150 –153
Sharland M, Burch M, McKenna WM, Patton MA. A clinical study of Noonan syndrome. Arch Dis Child. 1992;67(2):178 –183
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