Not Everything Is Down Syndrome: A Six-Year-Old's Regression

Four explanations must be considered, not assumed: (1) Seizures, especially absence seizures: brief staring with eyelid flutter, 4–6 times daily, with loss of skills, is a red flag. (2) Sleep-disordered breathing: loud snoring, mouth breathing, morning headaches, and daytime sleepiness suggest obstructive sleep apnea, which is common in Down syndrome and can cause attention and behavior changes. (3) Hearing loss: a two-year-old screening is stale; chronic runny nose and mouth breathing raise the risk of conductive hearing loss and otitis media. (4) Hypothyroidism: fatigue, weight change, constipation, and slowing are common and screened by blood test. Other possibilities include pain (dental, constipation, reflux), medication side effects, depression, and, less likely, a co-occurring autism spectrum disorder. 'Plateau' is inadequate because it attributes a change to the disability rather than asking what changed. This is diagnostic overshadowing: once a child has Down syndrome, new symptoms are too easily assigned to the syndrome. The team needs baseline data, frequency and duration of spells, a sleep log, a current audiological evaluation, thyroid function tests, and a neurological evaluation. The teacher's observation is useful, but it is not a diagnosis.

At school: (a) start a simple seizure action plan: time the episodes, protect the head, do not put anything in the mouth, roll him to the side afterward, and notify the nurse and parent; (b) move the nurse onto the team and request a health plan; (c) collect ABC data on the hitting, sleepiness, and loss of signing, and keep work samples; (d) with parental consent, ask the family to video a spell for the neurologist; (e) temporarily adjust the schedule to reduce fatigue (shorter morning meeting, movement breaks, snack), but do not remove communication supports; (f) continue AAC and sign instruction, and train staff to model without demanding; (g) refer for audiology, a sleep study, and pediatric or neurology follow-up through the family's physician, with releases of information. The team should not diagnose; it should describe observable data. The parent should receive plain-language information and help with appointments, and the school should coordinate with outside providers. If the spells involve loss of consciousness or injury, call 911. Document everything, because the pattern of frequency and duration will help the physician.

Lowering goals now would be a mistake because the team does not yet know whether the loss of skills is medical and treatable. The IEP should keep the communication and self-help goals but add accommodations and a review date. The teacher can adjust short-term objectives or benchmarks to reflect the current baseline while preserving the long-term expectation of using AAC and signing. The team should add goals for seizure safety, self-advocacy ('break'), and participation, and should specify who will collect data and how often. The message to the teacher should be: 'We are not lowering expectations; we are investigating a change in health and providing supports while we do it.' If the medical workup reveals a condition, the IEP team can reconvene and revise goals based on new information. If the regression persists, the team should consider a re-evaluation and whether additional disability-related needs (for example, other health impairment or autism) are present. Maintaining communication supports is especially important because losing signing may be a symptom, not a choice.