Medically Reviewed By Sonam Kothari, Written By Tejasvi Parekh
Individuals with Down syndrome (DS) and autism spectrum disorder (ASD) experience their diseases differently. ASD is a neurodevelopmental condition that predominantly affects behaviour and brain development, whereas DS is caused by an extra copy of chromosome 21, resulting in distinguishable physical and cognitive traits.
It is essential to comprehend each of these diseases separately and in combination to provide the right kind of assistance and treatments. There are common characteristics and difficulties among them despite their differences, which might complicate diagnosis and therapy.
Down syndrome, also known as trisomy 21, is a condition caused by an extra copy of chromosome 21. In contrast to Autism, Down syndrome seems to have clear physical and cognitive profiles.
One of the distinctive differences between Down syndrome and Autism is that whereas these characteristics occur on a continuum, individuals with Down syndrome often have specific physical features including almond-shaped eyes, a single crease across the hand, and a flat facial profile.
In addition to that, the disease has an association with various levels of intellectual disability. However, despite the fact that individuals with Down syndrome can learn and develop, cognitive impairments do affect their thought process often.
Health issues are also a common factor for the individuals who have Down syndrome. These people are more susceptible to several types of abnormalities, such as cardiac abnormalities, gastrointestinal disorders, and respiratory disorders, amongst other diseases.
These kinds of health problems call for early intervention and consistent regular check-up in a medical institution. Even though they undergo these hardships, most people with Down syndrome tend to be affectionate and warm concerning people in their social lives.
Even though they may experience delay in speech and language development, the right motivation coupled with support will enable them make meaningful relationships.
Individuals with Down syndrome often are successful participants in inclusive learning situations, provided such support occurs. People have the ability to reach their maximum potential through individualized learning programs.
Although mothers of an older age are no more likely than younger mothers to have a child with Down syndrome, the condition is not congenital. The condition is detectable both by screening and by diagnosis before birth, and it is often confirmed at birth either by direct observation or by genetic testing.
These lead to individual differences in the severity of Down syndrome, causing delays in development, intellectual impairments, and lifelong learning disorders. In addition, there may be other health problems, depending upon the severity, including heart defects.
In India, annually there are nearly 30,000 children born with Down Syndrome with a prevalence rate of 1 in 68 children. It affects boys more than girls-three times the incidence. The diagnosis can be confirmed before birth by prenatal karyotype testing and at birth with the help of observation and blood tests.
There are three types of Down Syndrome, differentiated through chromosomal testing:
Trisomy 21: About 95% of individuals with Down Syndrome have Trisomy 21, where each cell in the body has three copies of chromosome 21 instead of the usual two.
Translocation Down Syndrome: This type accounts for about 3% of cases. It occurs when an extra part or a whole extra chromosome 21 is attached to a different chromosome rather than being a separate chromosome 21.
Mosaic Down Syndrome: Affecting about 2% of individuals, this type involves a mixture of cells, some with three copies of chromosome 21 and others with the typical two copies.
Children with Mosaic Down Syndrome may have fewer features of the condition due to the presence of some cells with the typical number of chromosomes.
Understanding and embracing the uniqueness of each individual with Down Syndrome is essential. Supportive communities, early intervention, and personalized care can significantly enhance their quality of life.
A neurodevelopmental disorder, autism spectrum disorder (ASD) is characterised by abnormalities in brain development. Since 1943, science has advanced significantly and our understanding of the causes of ASD has grown significantly.
ASD is defined by the Diagnostic and Statistical Manual of Mental Health (DSM-5 TR) as limited, repetitive patterns of conduct and persistent difficulties in social communication. Autism exists on a spectrum due to the broad spectrum of symptoms, behaviours, and degrees of impairment associated with ASD. The symptoms and difficulties experienced by each individual with autism vary greatly.
By defining Autism as a spectrum, we recognise the diversity that exists concerning this disorder and how it affects people in various ways. For example, some autistic people might be nonverbal, on the other hand, some can speak their spoken language pretty proficiently.
Typically autism spectrum disorder (ASD) is characterised by deficits in social communication and repetitive patterns of behaviour. The disorder also leads to an inability to function in social, academic, and occupational settings.
The Autism and Developmental Disabilities Monitoring (ADDM) Network is run by the Centres for Disease Control and Prevention. One in every 36 children has been discovered to have ASD, according to ADDM. The World Health Organisation reported in 2019 that 1 in 100 youngsters globally receive an ASD diagnosis.
According to research published in the Indian Journal of Paediatrics, one in 68 children in India is thought to have autism.
Psychiatry currently classifies autism spectrum disorder (ASD) as a mental disorder. However, many researchers and advocates within the autism rights movement challenge this classification. They argue that autism, particularly high-functioning autism, should be recognized as a natural variation of human neurodiversity.
From this perspective, the focus shifts to accommodating autistic individuals rather than attempting to "fix" or alter them. Proponents argue that societal structures, rather than inherent flaws in individuals, create the most significant barriers for autistic people.
Yes, individuals with Down Syndrome (DS) can also have Autism Spectrum Disorder (ASD). Studies suggest that about 16-18% of people with DS also have ASD. It's important to understand that people with DS and autism have a range of skills and achieve developmental milestones at varying rates.
The common characteristics of autism may manifest differently in individuals with DS. Additionally, some behaviours seen in individuals with DS without autism can be similar to those in people with autism. Strategies and interventions effective for autistic individuals can often benefit those with DS as well.
When autism is present in someone with DS, social and behavioural challenges, communication difficulties, and restricted interests typical of autism may be observed alongside the intellectual disability and speech and language delays associated with DS.
Common traits in a person with both DS and ASD include challenges with social communication and interaction, reduced eye contact, not responding to their name, lack of imitation, difficulty expressing wants and needs without words, and a potential loss of previously acquired skills.
These individuals may also have significant language delays, limited use of gestures, and restricted play skills.
In terms of behaviours, those with DS-ASD might play repetitively with objects, make repetitive movements like hand-flapping, produce unusual or repetitive sounds, and exhibit sensory challenges such as being overwhelmed by loud noises or resisting physical affection.
Behavioural challenges can include frequent tantrums, running away without warning, self-harming behaviours, and extreme difficulty with changes in routine.
DS-ASD presents differently than either DS or ASD alone. Compared to individuals with DS, those with DS-ASD are more likely to have greater difficulties with communication, social engagement, sensory sensitivities, and behavioural challenges, alongside significant cognitive challenges.
Compared to those with only autism, people with DS-ASD may show more social interest in peers, face more significant cognitive challenges, have slower processing speeds, and display less severe repetitive behaviours.
Certain medical conditions are more common in individuals with DS, including vision and hearing problems, thyroid disorders, sleep apnea, celiac disease, seizure disorders, congenital heart disease, gastrointestinal anomalies, low muscle tone, delayed motor skills, and respiratory illnesses.
These conditions, as well as other behavioural or mental health issues and chronic pain, can affect behaviour and development, sometimes leading to behaviours that resemble autism.
Early diagnosis is crucial. Children with DS often receive a diagnosis early in life, sometimes even before birth, while those with both DS and ASD are typically diagnosed during elementary school age due to developmental regression that can occur later.
The ability to diagnose co-occurring conditions relies on awareness and understanding of both DS and ASD. Parents play a key role in identifying concerns about their child's behaviour and development, often through developmental assessments conducted during well-child visits.
Recognizing the differences and uniqueness of Down Syndrome and Autism Spectrum Disorder is vital for fostering better understanding and support for individuals with these conditions.
Each disorder presents its own set of challenges and strengths, and understanding these can lead to more effective interventions and inclusive environments.
People with DS and ASD can thrive with the right encouragement, personalized care, and early intervention. Appreciating their unique experiences and perspectives enriches our society, emphasizing the importance of tailored support and acceptance for all individuals, regardless of their diagnoses.
