Appendix 43 - Down Syndrome Checklists

Age Birth to 5 years

Neonate

3m

6m

1yr

2yr

3yr

4yr

5yr

Completed

Date

date

date

date

date

date

date

date

Confirm diagnosis with chromosomes (if not confirmed, important to identify translocations for recurrence risk counseling)

Screen for hypothyroidism (newborn screen, on Guthrie test only)

Observe for any signs of gastrointestinal malformations (duodenal atresia, malrotation, Hirschsprung's disease)

Monitor for signs of poor feeding or aspiration or GORD, early referral for a paediatric dysphagia assessment, treat GORD.

Check for cataracts and nystagmus, refer immediately if vision concerns

Check hearing at birth through the National Hearing Screening program and refer for specialist help as needed

Echocardiogram in all infants (immediately if concerns, ideally before discharge from hospital, otherwise by 6-8 weeks)

If stridor or other signs of airway anomaly, refer for evaluation

FBC in newborn to check for transient myeloproliferative disorder or polycythemia, if present, manage per specialty input.

Discuss and refer to Early Intervention Services (community paediatrics, physiotherapy, preschool teaching team and paediatric dysphagia team as a minimum) using Child Development Team referral form AND inform health visiting.

Liaise with neonatal outreach nurses for follow up (Barnet) after discharge

Review appointment with neonatal consultant

Consider Genetic Counseling referral (if not already obtained)

Refer parents to support groups and literature (Down Syndrome Association, Down Syndrome inserts for Red Book, See Appendix 2)

Address questions about alternative therapies (see pathway/ask for help)

Consider a children’s social care referral for Early Help (MASH) etc

Encourage all routine immunisations as per UK schedule

Consider RSV prevention if fulfills current RFH/National criteria

Community paediatric appointment by 3 months, then 6m, 1year and annually after that

Repeat thyroid screening (TSH, T4 and thyroid antibodies) at 6 months, 12 months, then yearly

Vigilant attention to middle ear effusion. If canals preclude exam, consult ENT for microscopic examinations (every 3-6 months)

Review growth (use DS specific growth charts)

Discuss development with particular focus on feeding, language, social, and gross motor skills and services to optimize, vision and hearing.

If not walking by 3 years of age – consider hip Xray.

Ask about any abnormal movements that parents are concerned about, consider referral, EEG and ask for videos.

Refer to Ophthalmology by 6 months, follow-up at 12 months then yearly.

Refer to audiology services for review at 9-12m, and then yearly

Review access to support groups and Early Intervention services at all well child visits – pre-school teaching team, physiotherapy.

Ensure health visiting involvement

Support for DLA (e.g. via MENCAP) and check benefits and welfare rights.

Ensure follow-up for prior diagnosed health issues (e.g.cardiac, GI, haematology, respiratory etc at local and tertiary levels)

Check chest health and review infection history: admissions, antibiotic courses – consider antibiotic prophylaxis, respiratory referral, chest X-ray and/or immunology testing.

Thyroid Screening (TSH, T4 and thyroid autoantibodies) at 6 and 12 months, then yearly

Consider HLA testing (to define potential for coeliac disease) from 6months as becomes available (irrespective of gluten intake)

Repeat FBC at 6 months if born prematurely – low threshold for annual FBC is clinically indicated

Consider Iron studies (ferritin and iron studies), FBC, Vitamin D levels at 6m, 12m and yearly if medical need or dietary concerns, only as clinically indicated and not routine.

Review signs and symptoms of coeliac disease - very low threshold for testing for coeliac antibodies with a total IgA if the child is on enough gluten for the test to be valid (need for repeat testing if symptoms persist is unclear at this time but consider rescreen if new symptoms emerge).

Educate families on symptoms related to atlanto-axial instability and seeking medical help, potential risk of contact sports/gymnastics, and perform neurologic /musculoskeletal examination yearly.

Monitor for symptoms of obstructive sleep apnoea (sleep disordered breathing). Referral for a formal sleep study/review if any symptoms on routine questioning to GOSH or Evelina Sleep centres. Repeat as indicated.

Routine overnight oximetry screening recommended at 6m, 12m and yearly till 3-5 years of age for any child without symptoms through the homecare nurses.

Discuss transition from early intervention program to preschool that will often occur at age three.

Discuss transition from preschool to school that occurs at age four.

Consider health and therapy referrals as needed e.g. OT, orthotics, enuresis service, health visiting, school nursing, weight management team, CAMHS.

Pneumococcal polysaccharide vaccine (PPV23) to all children and young people, after the age of 2 years, then repeated 5 yearly (5 year gap between doses).

Annual flu vaccine from age 6m (injection 6m to 2 years and nasal from 2 years) and the household contacts too

Ages 5-12 years

6yr

7yr

8yr

9yr

10yr

11yr

12yr

13yr

Completed

Date

Date

Date

Date

Date

Date

Date

Date

Ensure follow-up for all prior diagnosed health issues (local and tertiary) e.g.

Cardiac,

GI,

Haematology,

Respiratory,

ENT

Community paediatric appointment at least annually

Monitor growth (DS-specific charts)

Height

Weight

BMI

Review diet, nutrition, healthy eating for dental care

Consider referral to dietician if appropriate

Exercise and interests - specific emphasis on lifestyle to prevent obesity.

Review Gross Motor skills

? requires physiotherapy

Orthotics

Review fine motor skills

?requires OT assessment

Especially at transition to primary and secondary school

Consider health and therapy referrals as needed e.g. OT, orthotics, enuresis service, school nursing, weight management team, CAMHS.

Consider a children’s social care referral for Early Help or the Children’s Disability team (MASH) etc

Support for DLA (e.g. via MENCAP) and check benefits and welfare rights.

Annual hearing screening

Annual vision screening

Annual thyroid screening (TSH, T4 and thyroid autoantibodies) and refer if abnormal as per guidelines.

Consider Iron studies (ferritin and iron studies), FBC, Vitamin D levels yearly if medical need or dietary concerns, only as clinically indicated and not routine.

Check chest health and review infection history: admissions, antibiotic courses – consider antibiotic prophylaxis, respiratory referral, chest X-ray and/or immunology testing.

Encourage all routine immunisations as per UK schedule

Consider repeat screen for coeliac disease - review signs and symptoms of coeliac disease - very low threshold for testing for coeliac antibodies with a total IgA if the child is on enough gluten for the test to be valid. (Check if HLA typing available)

Educate families on symptoms of atlanto- axial instability; perform neurologic/musculoskeletal examination yearly

Monitor for symptoms of obstructive sleep apnoea (sleep disordered breathing). Referral for a formal sleep study/review if any symptoms on routine questioning to GOSH or Evelina Sleep centres. Repeat as indicated.

Annual flu vaccine from age 6m (injection 6m to 2 years and nasal from 2 years) and the household contacts too

Pneumococcal polysaccharide vaccine (PPV23) to all children and young people, after the age of 2 years, then repeated 5 yearly (5 year gap between doses).

Discuss development with particular focus on language and social skills and services to optimize.

Liaison with school services (Inclusion lead / SENCO) and therapy services.

Discuss behaviour, referral for evaluation and support if challenging

Discuss social communication, referral for evaluation and support

Discuss menstrual hygiene management; contraception

Ages 14 years to Adult

14 years

15 years

16 years

17 years

18 yrs+

Completed

Date

Date

Date

Date

Date

Ensure follow-up for all prior diagnosed health issues (local and tertiary) e.g.

Cardiac,

GI,

Haematology,

Respiratory,

ENT

Community paediatric appointment at least annually

Directed Enhanced Service (DES) from age 14yrs by GPs (annual review), send letter to GP about this and refer to Down’s Syndrome Association checklists and booklets.

Monitor growth (DS-specific charts)

Height

Weight

BMI

Review diet, nutrition, healthy eating for dental care

Consider referral to dietician if appropriate

Exercise and interests - specific emphasis on lifestyle to prevent obesity.

For obesity, check consequences of obesity e.g. lipid profile, BP, HbA1c

Review Gross Motor skills

? requires physiotherapy

Orthotics

Review fine motor skills

?requires OT assessment

Especially at transition to secondary school and sixth form

Consider health and therapy referrals as needed e.g. OT, orthotics, enuresis service, school nursing, weight management team, CAMHS.

Consider a children’s social care referral for Early Help or the Children’s Disability team (MASH) etc

Support for DLA (e.g. via MENCAP) and check benefits and welfare rights.

Annual hearing screening

Annual vision screening

Annual thyroid screening (TSH, T4 and thyroid autoantibodies) and refer if abnormal as per guidelines.

Consider Iron studies (ferritin and iron studies), FBC, Vitamin D levels yearly if medical need or dietary concerns, only as clinically indicated and not routine.

Check chest health and review infection history: admissions, antibiotic courses – consider antibiotic prophylaxis, respiratory referral, chest X-ray and/or immunology testing.

Encourage all routine immunisations as per UK schedule

Consider repeat screen for coeliac disease - review signs and symptoms of coeliac disease - very low threshold for testing for coeliac antibodies with a total IgA if the child is on enough gluten for the test to be valid. (Check if HLA typing available)

Educate families on symptoms of myelopathy and, related to atlanto- axial instability, perform neurologic and muskuloskeletal examination yearly – also enquire about any pain or any joint swellings?

Monitor for symptoms of obstructive sleep apnoea (sleep disordered breathing). Referral for a formal sleep study/review if any symptoms on routine questioning to GOSH or Evelina Sleep centres. Repeat as indicated.

Annual flu vaccine from age 6m (injection 6m to 2 years and nasal from 2 years) and the household contacts too

Pneumococcal polysaccharide vaccine (PPV23) to all children and young people, after the age of 2 years, then repeated 5 yearly (5 year gap between doses).

Discuss development with particular focus on language and social skills and services to optimize.

Liaison with school services (Inclusion lead / SENCO) and therapy services.

Discuss behaviour, referral for evaluation and support if challenging

Discuss social communication, referral for evaluation and support

Discuss menstrual hygiene, sexuality, self-care, sexual health/PSHE, contraception.

Discuss parents’ goals for child (e.g., academic, self-help, athletic, social) and child’s progress, ensure supports to optimize

Discuss behavior and social communication, referral for evaluation

and supports if challenging

Discuss transition issues, group homes, settings, and other community supported employment

One-off school leaving echocardiogram

Transition planning with education, health, social care, families, young person. Send letter to GP about this and refer to Down’s Syndrome Association checklists and booklets.

Consider additional referrals around transition to adult services e.g. adult neurology, adult mental health (Learning Disability team), LD nurses in community, adult cardiology.