When to refer a child with possible Rett Syndrome

When a little girl who was developing normally begins to slip backwards, your instinct to act is exactly right — and acting early changes everything.

In short

Refer promptly to a paediatrician or developmental specialist whenever you observe a child — almost always a girl, usually between 6 and 18 months — who was developing typically and then slows down, stalls, or loses skills she once had. The combination of developmental regression plus loss of purposeful hand use and repetitive hand movements (wringing, washing, mouthing) is the classic alarm pattern. You do not need to be certain — your job is to notice and route, not to diagnose.

What to watch — refer when you see

• Regression: losing words, babble, or hand skills that were already present
• Loss of purposeful hand use with new repetitive hand-wringing or hand-to-mouth movements
• Slowing head growth (deceleration on the growth chart) in the first two years
• Loss of social engagement or eye contact that had previously been present
• Unsteady, stiff, or wide-based walking, or not walking when expected

Any one of these in a child who was progressing well warrants specialist referral. Two or more together — refer the same week.

The science, briefly

Rett Syndrome (WHO ICD-11 LD90.0) is a genetic neurodevelopmental condition, in most cases linked to the MECP2 gene. Its hallmark is a period of normal early development followed by regression — which is why your baseline observations over the well-child visits are so valuable. Early specialist referral allows genetic confirmation and, crucially, early therapy to protect communication, movement and quality of life.

The Pinnacle way

Developmental measurement supports care planning; diagnosis requires an appropriately qualified healthcare professional., under qualified clinician care — never from a screening checklist or an online form. As a frontline worker, your strength is early recognition; ours is confirming the picture and building the plan. With 70+ centres across 4 states and a structured, clinician-administered AbilityScore® assessment, we partner with you to move a child swiftly from concern to care, supporting communication and movement through therapy.

Trusted sources

WHO ICD-11 (LD90.0); American Academy of Pediatrics developmental surveillance guidance; CDC developmental milestones resources.

Next step — Don't wait for certainty. Book a developmental assessment at your nearest Pinnacle centre, or call your district paediatric referral line the same week.

This is general information, not a diagnosis — individual assessment and diagnosis require an appropriately qualified healthcare professional.