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1 MONTH TO 1 YEAR

Babies may reach developmental milestones (e.g., sitting, standing and walking) later than other children, but they are still significant and exciting to watch! Regular wellness visits (physical exams, blood testing, growth monitoring and immunizations) are needed during this age. Administer immunizations, including influenza vaccine, unless

contraindicated. Monitor growth (determine BMI, weight, and height trends) using standard growth charts from the National Center for Health Statistics or WHO.

GUIDELINES

RESOURCES

Genetic Counselling, Risk Counselling

Growth Charts

Infant Developmental Program

Social Support (parent support groups, counselling)

FORMS

Assessment Checklist - 1 Month to 1 Year
Assessment Form - 1 Month to 1 Year
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Heart

Congenital heart disease (prevalence ~50% individuals with DS)

Assessment: Monitor infants with cardiac defects (typically ventricular or atrioventricular septal defects), paying attention to signs of congestive heart failure including tachypnea, feeding difficulties, and poor weight gain.

Recommended: To limit the development of pulmonary hypertension and other complications, repairs should be conducted as soon as possible. Review nutritional status, support might be needed until cardiac surgery.

Pulmonary Complications of Down Syndrome during Childhood

Associated congenital anomalies among cases with Down syndrome

Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome

Other malformations: digestive, urinary respiratory tract, muscular skeletal.

Hearing

Otitis media (prevalence ~50-70% of children with DS)

Assessment: Review with family the risk of serous otitis media and the results of the previous hearing evaluation (if done); re-screen at 6 months for confirmation. Tympanometry may be required to visualize the tympanic membrane.

Recommended: Refer to an otolaryngologist to determine if middle ear abnormality is present.

Hearing loss in children with Down syndrome 

Outcomes of tympanostomy tube placement in children with Down syndrome—A retrospective review

Infections and immunodeficiency in Down syndrome

Frequent infections due to primary (T&B cells), secondary (nutritional, lifestyle) and anatomical (e.g. upper respiratory tract) abnormalities.

Vision

Vision Problems (prevalence ~60% in individuals with DS )

Recommended: Refer to an ophthalmologist in the first 6 months of life to evaluate for strabismus, cataracts, and nystagmus.

Reference name here 

Strabismus, Cataracts, Nystagmus

Thyroid

Thyroid Disease (prevalence ~4-18% in individuals with DS)

Assessment: Repeat thyroid function tests (fT4, TSH) at 6 and 12 months of age.

Recommended for positive results: Refer to pediatric endocrinologist to discuss further management.

Down Syndrome and Thyroid Function

Endocrine Manifestations of Down Syndrome

Thyroid disorders in subjects with Down syndrome: an update

Congenital hypothyreosis can manifest beyond newborn period; Treatment of subclinical hypothyreosis (hyperthyreotropinemia) is discussed controversially, but can be first manifestation of thyroid autoimmunity.

Stomach/Bowel

Congenital gastrointestinal tract abnormalities: duodenal atresia or anorectal atresia/stenosis (prevalence ~5% children with DS)

Assessment: Detailed history and examination for symptoms/signs of constipation, hypotonia, gastrointestinal tract malformation (Hirschsprung disease), restricted diet, limited fluid intake, or gastroesophageal reflux.

Recommended: Refer for subspecialty intervention if congenital abnormality suspected/if reflux is severe.

Influence of Down’s syndrome on management and outcome of patients with congenital intrinsic duodenal obstruction 

Feeding problems and gastrointestinal diseases in Down syndrome

Feeding, swallowing, digestive problems can be due to: anatomical malformations; infectious/ immunological problems (H-Pylori, colitis, hepatitis), functional (sucking, swallowing, chewing, reflux).

Development, Cognition, Neurological

Hypotonia; Infantile Spasms (prevalence ~1-13%)

Assessment: History and examination looking for symptoms/signs of hypotonia (low muscle tone affecting daytime functioning) and hyperarousability (jerkiness and irritability), which may be associated with dysfunctions in serum iron and/or seizures (e.g. infantile spasms).

Recommended: Radiographic swallow assessment if significant hypotonia/signs of dysphagia during feeding.

Description of the motor development of 3–12 month old infants with Down syndrome: The influence of the postural body position 

Development of reaching and grasping skills in infants with Down syndrome

Down Syndrome and Epilepsy 

Cognitive deficits and associated neurological complications in individuals with Down’s syndrome

Down Syndrome: Cognitive and Behavioral Functioning Across the Lifespan

Neurological phenotypes for Down syndrome across the life span

Neuroimaging assessment in Down syndrome: a pictorial review

Non-verbal skills and memory are strengths compared to verbal skills. Attention and executive functions get worse with age. Emotional and behavioural deterioration associated with neurodegeneration/dementia in adulthood.

Blood

Transient Myeloproliferative Disorder (Incidence 10-30% for infants with DS )

Recommended: RBC/WBC & blood smear: Transient myeloproliferative disorder, leukemia; Obtain hemoglobin, serum ferritin, & CRP at 1 year to assess for anemia and/or iron deficiency.

Infections and immunodeficiency in Down syndrome 

Infections and immunodeficiency in Down syndrome

Transient myeloproliferative disorder in children with Down syndrome: clarity to this enigmatic disorder

The Biology, Pathogenesis and Clinical Aspects of Acute Lymphoblastic Leukemia in Children with Down Syndrome

The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System

High incidence of lymphoblastic/myeloblastic leukemia in infancy/childhood; low incidence of solid tumors. Transient myeloproliferative disease in infants. T&B cell abnormalities.

Genetics

Down syndrome occurs when an individual has a full, or partial, extra copy of chromosome 21. There are three different forms of Down syndrome depending on the way how the extra copy of chromosome 21 presents: Trisomy 21, Mosaicism, Translocation.

Trisomy 21

Mosaicism

Translocation

Underlying Pathophysiology

Genetic Counselling

Chromosome 21, Trisomy 21, Karyotype, Non-disjunction, Mosaic, Mosaicism, Robertsonian, Translocation, Genetic Counselling

Sleep Issues

Obstructive sleep apnea (prevalence ~30-75% children with DS)

Assessment: Discuss sleep problems and their symptoms/signs: mouth breathing, heavy breathing, snoring, apneic pauses, uncommon sleep positions with reclined head, frequent night awakenings, daytime sleepiness. Note that obstructive sleep apnea (OSA) is at the higher end of the sleep disordered breathing spectrum).

Clinical best practice: Behaviour problems associated with poor sleep are usually secondary and not primary.

Obstructive sleep apnea in patients with Down syndrome: current perspectives 

A review of the nature and treatment of sleep disorders in individuals with developmental disabilities  

Screening for Obstructive Sleep Apnea in Children with Down Syndrome

The restless legs syndrome

Validation of the International Restless Legs Syndrome Study Group rating scale for restless legs syndrome

Effect of Body Position and Sleep State on Obstructive Sleep Apnea Severity in Children with Down Syndrome

Obstructive Sleep Apnea in Young Infants with Down Syndrome Evaluated in a Down Syndrome Specialty Clinic

Obstructive sleep apnea can cause cognitive/ behavioural deterioration; untreated sleep apnea causes cardiovascular morbidities.

Musculoskeletal/ Cervical Spine Positioning

Atlantoaxial instability (prevalence 1-2% for individuals with DS)

Assessment: Detailed history and examination looking for myelopathic signs related to spinal cord impingement, which may be caused by atlantoaxial instability.

Recommended: Stable positioning during anesthetic, surgical, and radiographic procedures to minimize the risk of spinal cord injury.

Fine motor and self-care milestones for individuals with Down syndrome using a Retrospective Chart Review

Spinal Cord Injury, Myopathy

Immunization

Recommended: Routine vaccinations; also review the need for respiratory syncytial virus prophylaxis.

Immunisation Protecting People with Down’s Syndrome Against Infection

Spinal Cord Injury, Myopathy

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