Explains the different types and important related profiles without reducing the person to a label.
| Type/Term | What it means | Practical Direction | Sources |
|---|---|---|---|
| Standard trisomy 21 | Extra copy of chromosome 21 is present in the body's cells, usually due to a chance change in egg or sperm before conception. | Most common form. Needs vary widely and cannot be judged by type alone. | Down's syndrome |
| Translocation Down syndrome | Extra chromosome 21 material is attached to another chromosome. | Ask about genetics referral/counselling, especially for family planning or if the report mentions translocation. | Down's syndrome |
| Mosaic Down syndrome | Some cells have the extra chromosome 21 material and some do not. | Presentation can vary. Do not assume someone is 'mild' or 'not affected' without assessing actual needs. | Down's syndrome |
| Prenatal screening | Screening estimates chance; it is not a diagnosis. Diagnostic tests such as CVS or amniocentesis can confirm. | Parents should be given balanced, non-judgemental information and support. | Down's syndrome;Down's Syndrome Association |
| Postnatal diagnosis | Diagnosis after birth is usually confirmed by chromosome testing. | Ask for clear written results, paediatrician follow-up and signposting to local/national support. | Down's syndrome |
| Learning disability | Most people with Down's syndrome have some degree of learning disability. | Support should be based on individual assessment, not assumptions. | Mencap Down syndrome |
| Dual diagnosis: autism | Autism can co-exist with Down's syndrome. Communication, sensory, social and regulation needs may be misunderstood if professionals only see the Down's syndrome diagnosis. | Ask for neurodevelopmental assessment where autistic traits are causing significant needs. | other health conditions;Mencap Down syndrome |
| Dual diagnosis: or attention needs | Attention, impulsivity, executive function and sleep difficulties may need assessment and support. | Use visual structure, short tasks, movement breaks and medical checks for sleep/hearing first. | how to help CYP |
| Hearing and vision needs | Sensory impairment can look like behaviour, inattention, non-compliance or slow learning. | Keep hearing and sight evidence current for school///. | other health conditions;DSMIG medical surveillance |
| Medical complexity | Some people have heart, feeding, respiratory, gastrointestinal or haematology needs. | Ensure school has care plans, risk assessments and named responsibilities. | other health conditions;DSMIG medical surveillance |