Approach
The American Academy of Pediatrics has developed health supervision guidelines for managing the care of children and adolescents with Down's syndrome (DS) in the US.[17] The goal of treatment is to maximise independence and enable participation in community life with family and peers.
Children with DS should receive the same preventative health care as any child. Families may have many concerns and questions; hence, it is important for physicians to provide up-to-date and accurate information.
Appropriate educational placement with ongoing interventional therapies is essential in maximising the child's potential. Individuals with DS should be encouraged to participate in all aspects of community life with involvement in recreational activities to strengthen their social skills.
The primary care physician has a valuable role in caring for patients with DS and their families by serving as their advocate and providing anticipatory guidance relating to preventative medical care, development, education, and transitioning to adulthood.
Assessment for life-threatening medical conditions in the neonatal period
It is important to note specific medical conditions that are associated with DS.[17][28] Some infants with DS may not have the constellation of physical characteristics but present with these associated medical conditions.
About 50% have a congenital heart disease (CHD).[17][28][29] Atrioventricular septal defect is the most common form of CHD in DS (31% to 61% in population-based studies of CHD subtypes in DS), with a much higher prevalence than in the general population.[33] Evaluation by a paediatric cardiologist, including an echocardiogram, is recommended in all newborns with DS (even in the absence of a murmur), with emergency therapy instituted as necessary.[17][28][29]
An abdominal x-ray is indicated in infants with DS if a congenital gastrointestinal defect is suspected. Approximately 5% of infants with DS are at risk of congenital gastrointestinal obstruction.[30] The newborn should be referred to a specialist in cases of suspicion.
Parental genetic counselling
Once DS is diagnosed, it is imperative that parents receive genetic counselling and up-to-date, balanced information about DS. The geneticist and/or genetic counsellor reviews the chromosome results, and explains the recurrence risk in future pregnancies and availability of testing options in future pregnancies.
The recurrence rate for parents of a child with standard trisomy 21 is 1%, or 1 in 100, until the maternal age-related rate is greater than 1%.[12][16] For mothers <30 years old, the rate of recurrence is about 1.4%, and for those with advanced maternal age, the rate is related to their current age. The reason for this increased rate of recurrence in women <30 years remains unclear but may be related to an age-independent increased chance of non-disjunction or a decreased likelihood of miscarriage of trisomic fetuses. For a child with translocation, the chance of recurrence for parents varies depending on the type of translocation. Parental chromosome karyotyping is obtained before providing recurrence estimates. Parents of a child with a de novo (sporadic) translocation have the same rate of recurrence as that of standard trisomy 21.[5][12] A father with a balanced translocation has a 3% to 5% chance of having a child with DS, and a mother with a balanced translocation has a 10% to 15% chance. If either parent carries the 21q21q translocation, the rate of recurrence is 100%.[5][12]
Families of a child with a new diagnosis of DS should be provided with contact information for local parent support groups and be connected to a local DS clinic. Physicians should also provide parents with up-to-date printed material and resources, and can refer parents to support groups. Parents should be offered contact information of local support groups, community resources, and other families with children with DS. A directory of local support groups can be located through support group association internet resources. These include the Down's Syndrome Association, the National Down Syndrome Society, and the National Down Syndrome Congress.[19] National Down Syndrome Congress Opens in new window Down's Syndrome Association Opens in new window National Down Syndrome Society Opens in new window
Early interventional therapies in childhood
Early intervention programmes for infants and toddlers with developmental delay are recommended with focus on gross motor, fine motor, language, and social development.[17]
Physiotherapy: the goal of physiotherapy is not to accelerate the rate at which the child with DS achieves his or her gross motor milestones; it is to ensure that the child avoids developing abnormal compensatory movement for the physical limitations (e.g., hypotonia, ligamentous laxity, decreased strength, and short arms and legs relative to the length of the trunk).[50]
Occupational therapy: this facilitates the development of fine motor skills and mastering daily living skills for independence. These skills include feeding, dressing, writing, and playing. In addition, infants with DS who have hypotonia and feeding issues may receive occupational therapy with a focus on oral-motor exercise.
Speech and language therapy: children with DS universally have language delay that is further affected by their low muscle tone, small mouth with protruding tongue, and open-mouth posture. Difficulties in motor planning and coordinating rapid movements of the tongue, lips, jaw, and palate affect speech intelligibility. Expressive language is more delayed than receptive language. Language intervention should begin early and involves the family, and the child's learning style should be considered when designing a language intervention programme. Pre-language and pre-speech skills can be addressed even before the child is ready to communicate verbally.[51] Children with DS may use phonological awareness skills in learning to read and may benefit from phonics-based reading instructions.[52]
Educational resources
Children with disabilities have a right to free, equal, and appropriate education in the least restrictive environment from aged 3-22 years. They should continue to receive interventional therapies specific to their needs such as speech therapy, physiotherapy, and occupational therapy in school. In addition, an individualised educational plan is designed to address the child's needs with appropriate educational and therapeutic support. A comprehensive psycho-educational evaluation of the child's cognitive, achievement, and adaptive skills may be carried out to determine the child's strengths and challenges.
A successful transition from childhood to adulthood requires a functional curriculum in a natural and integrated setting with appropriate services in the least restrictive setting. An individualised transition planning process and placement in an employment programme should also be included, with coordination between the educational setting, employment agencies, parents, and the young adult.[53]
After high school, individuals with DS may pursue post-secondary education in academic programmes, vocational or training programmes, or programmes with a combination of academic and vocational training. The transition from childhood to adulthood should be planned when the child with DS is about 14 years of age. The most common transition goals include post-secondary education, employment, and optimal function in the least restrictive environment.[35]
Ongoing monitoring for complications in childhood
The American Academy of Pediatrics has developed health supervision guidelines for managing the care of children and adolescents with DS in the US.[17] Resources from the UK are also available.[54][55][56] Children with DS should receive the same preventative health care as any child, with additional monitoring as indicated. For example, those with DS have a higher frequency of congenital and acquired medical conditions, including audiological, vision, gastrointestinal, haematological, and thyroid issues. Physicians should also continue to monitor the child's developmental, educational, behavioural, and social functioning.
See Monitoring for full details.
Complementary and alternative therapies
Few studies have been published on complementary and alternative medical care therapies specific to DS. No evidence-based systematic reviews have found a positive effect of therapeutic dietary supplements and drugs on cognitive function in DS.[57][58] There is no scientific evidence that treatment with piracetam or amino acid supplements can improve the cognitive functioning of patients with DS.[59]
The National Down Syndrome Society and National Down Syndrome Congress medical advisory teams have issued policy statements that giving vitamin-related therapies (e.g., the vitamin/mineral/amino acid/hormone/enzyme combination) has not been shown to be of benefit in a controlled trial, that the rationale for these therapies is not supported, and that the previous use of these therapies has not produced any scientifically validated significant results. Moreover, the long-term effects of chronically taking many of the ingredients in these preparations are unknown.[60]
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