Rett Syndrome
When to refer a child with possible Rett Syndrome
Refer promptly when a girl who was developing normally (typically 6–18 months) slows, stalls, or loses skills — especially loss of purposeful hand use with repetitive hand-wringing, slowing head growth, and lost eye contact. You don't need certainty; recognise and route. Diagnosis is made only by a specialist.
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
A clinical AbilityScore® and any diagnosis are formed only at a Pinnacle Blooms Network centre, 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 — a clinical AbilityScore® and any diagnosis are formed only at a Pinnacle Blooms Network centre under qualified clinician care.
What to watch
Refer the same week if a child who was developing well loses words or hand skills, develops repetitive hand-wringing or hand-to-mouth movements, shows slowing head growth, or loses eye contact and social engagement.
Try this at home
At each well-child visit, briefly note whether the child is gaining, holding, or losing skills compared with last time — a quiet loss of an existing skill is the single most important sign to act on.
Trusted sources
Developed by SETU Consortium · Pinnacle Blooms Network · Last reviewed 2026-06-10 · reviewed every 365 days
This is general information, not a diagnosis. A clinical AbilityScore® and any diagnosis are formed only at a Pinnacle Blooms Network centre, under qualified clinician care.
Frequently asked
Does Rett Syndrome only affect girls?
It is seen almost exclusively in girls, as the genetic change involved is usually not survivable to birth in boys. Any girl who loses previously acquired skills warrants referral.
Should I wait to be sure before referring?
No. Your role is to recognise the pattern and route promptly. Certainty and diagnosis are the specialist's job — early referral protects the child's communication and movement.
What is the single most important sign?
Regression — the loss of skills a child once had, particularly purposeful hand use replaced by repetitive hand-wringing or hand-to-mouth movements.