Toddler: Delayed walking and talking
H was born following a normal pregnancy, labor and delivery with no concerns in the post-partum period. He was hospitalized at 6 months of age with respiratory distress secondary to viral illness. He was a generally healthy baby but was delayed in meeting his developmental milestones (he sat independently at less than a year, started walking at 16 months, and started talking at 2 years). He began speech therapy at 2 years of age.
What should have occurred, based on H’s developmental history? Now read what happened.
Significant Family History
His mother had cataracts in her 40s. H’s maternal uncle also had cataracts recognized in his 40s. His two maternal aunts are not known to have cataracts. H’s maternal grandmother required cataract surgery at age 72, but was otherwise in good health.
Continued Growth and Development
At age 4 years, H’s parents voiced concerns regarding delayed gross motor skills, ambulation and speech (poor coordination, frequent falling, unclear speech, an open mouth posture and drooling). At age 5 years, H was referred to a developmental pediatrician. No formal diagnosis was made. The developmental pediatrician made a referral to genetics; however the parents did not follow through on the referral.
For the next 7 years, H’s parents felt that he had made slow but steady developmental progress without any loss of skills.
Clinical Pearl: Children can make developmental progress, even with progressive weakness. Developmental progress does not exclude the possibility of an underlying neuromuscular condition.
He was always smaller than other children. He fatigued more quickly and had less energy and coordination compared to his age-matched peers. He was mainstreamed into regular classes through fourth grade, and then was moved into a special education program.
H was hospitalized at age of 13 for a respiratory illness. During that hospitalization, his providers recognized that he was significantly developmentally delayed and hypotonic with no known etiology. A CK was drawn due findings of hypotonia and a weak cough. CK was 880 (normal 0- 305). H was referred to a neurologist. Following consultation with the neurologist, H was diagnosed with myotonic dystrophy.
Based on the family history of cataracts, H’s mother was evaluated by neurology and also diagnosed with myotonic dystrophy. The diagnosis explained some of her ongoing health issues and helped her and her primary care provider anticipate future health concerns. The neurologist suggested that H’s grandmother and uncle be evaluated as well. As H’s uncle had recently married, a genetic evaluation and counseling were recommended.