Long-Term Effects of Down Syndrome Spectrum on Daily Life

Why this article on Down syndrome, development, and daily life?

I have been a physical therapist since 2012. While I am not specialized in pediatric physical therapy, I occasionally treat infants, children, or adults with Down syndrome.

Mainly for:

• Episodes of bronchiolitis and other acute respiratory problems
• Neuromotor rehabilitation before walking age
• Rehabilitation following a fracture or other issues

I see these peoples at their homes, as I provide home physiotherapy services in my community.

I have also worked for a while in institutions that accommodate individuals with disabilities, including those with Down syndrome.

Therefore, I regularly interact with individuals with Down syndrome and their families, and occasionally with those who have decided to terminate a pregnancy upon learning a diagnosis of Down syndrome or have chosen adoption for their child.

I observe significant differences in how they experience daily life (or anticipate daily life). Most of the time, they express having “suffered” at some point due to the lack of available information about living with Down syndrome and developmental stages.

Some families are aware of dedicated Down syndrome associations (links at the end of the article) or social media accounts (links at the end of the article) but may not necessarily want to contact or consult these resources.

Hence, this article is primarily for those searching for information through their search engines on the spectrum and daily life with Down syndrome.

On a more anecdotal note, since the age of 6, I have had daily and close contact with a classmate with Down syndrome. I was comfortable in school, and the teacher asked me for two years, in the first and second grades, to assist this classmate.

There was no adult to help her at school, except her mom occasionally; this was in 1996/1997.

It is one of my childhood experiences that I remember the most, and I often think about it. I cannot say whether it was a “beautiful” experience or, conversely, a “traumatizing” one. Simply memorable, thought-provoking, and challenging at times.

I do not know if this is partially related to this experience, but I have always been generally comfortable afterward with individuals with “intellectual disabilities” or “behavioral differences,” regardless of their origin (Down syndrome, cerebral palsy, autism, etc.).

What are the consequences of Down syndrome on the motor development of a baby, child, adult?

It is known and described that, in general (because, as in the general population, there are always exceptions and people at both extremes), in individuals with Down syndrome:

• Sometimes, medically, it is referred to as “motor delay”; some individuals never acquire motor skills that most (but not all) people without Down syndrome acquire. For example, riding a two-wheeled bicycle without training wheels or swimming.
• Others, on the contrary, excel in these areas and are better than the average individuals without Down syndrome. What is the extent of this delay, if there is one? We have precise figures on this.

Are you familiar with the growth charts for tracking the weight and height of your baby and then your child? Charts that show how the weight on average evolves in children of the same age and generation?

Well, we have similar types of charts for the motor development of infants, babies, and children with Down syndrome.

What do these curves tell us?

The gray curve shows the median age of acquisition for each milestone. This means that half of the babies with Down syndrome acquire this developmental milestone before this age, and the other half after this age.

For example:

• walking without support and without holding hands for at least 5 meters is achieved by half of the children with Down syndrome before 24 months and by the other half after 24 months.
• Sitting is achieved by half before 10 months and by the other half after 10 months.

The orange curve shows the first quartile of acquisition. This means that 1 in 4 babies with Down syndrome acquires the skill before the indicated date. For example, 1 in 4 babies with Down syndrome crawls before 14 months.

The purple curve indicates that 5% of children with Down syndrome acquire the milestone later than the indicated age (or do not reach it). For example, 5% of children with Down syndrome do not walk while holding both hands on support before the age of 35 months (approximately 3 years). So, 95% achieve this before 3 years!

The blue curve indicates that 5% of babies acquire the skill before the indicated age. For example, 5% of babies with Down syndrome walk 5 meters without assistance before the age of 18 months.

We have similar charts for subsequent motor milestones:

These curves teach us, for example, that 1 in 2 children with Down syndrome learns to jump before the age of 40 months (a little over 3 years). And that going down stairs one step at a time is one of the most challenging motor skills, although 95% of children with Down syndrome achieve it before the age of 9.

These curves also show that children progress for a long time and acquire many new abilities over the years!

Saying this has a double edge: 1/ it is interpreted positively by some parents; 2/ others may dislike the valorization of motor skill acquisition, a form of ableism.

Another important point raised by this research team, and we will discuss it later: regardless of the age at which children start motor rehabilitation sessions (with a physical therapist, occupational therapist, or other), it had no statistical influence on age.

This information can reassure parents who, for one reason or another, start physiotherapy late (or never start: it happens too!).

Finally, the research team also concludes that there is a very large variability between babies and children in the age of acquisition: some acquire “fundamental” motor skills (such as sitting) years before others. Much more variability than in the general population.

A Polish study concludes that the difference in the development of motor abilities (between a child with Down syndrome and a non-carrier child) increases with age. It is about 2 years in children aged 5. (Malak 2015)

This Polish study (conducted on a smaller sample of children) provides different figures. For example, only 10% of children under 3 could stand. And most learn to walk after 3 years.

We also have similar figures showing great variability between children in other areas. For example:

• the average age of babbling onset is around 15 months, with an interindividual variability of 10 months;
• control of the sphincter is acquired by children with Down syndrome at an approximate age of 44 months, with an interindividual variability of 22 months;
• some children are non-verbal, while in others, vocabulary is close to normal. (Source: Windsperger 2021).

Why are motor skills different in people with Down syndrome?

Several things explain that people with Down syndrome evolve differently, especially in terms of motor skills. These things happen mainly from the baby’s 6 months:

• Disorders in the maturation of the central nervous system,
• Changes in the shape and number of neurons and modifications in brain size;
• Processes leading to a decrease in the release of neurotransmitters;
• Lower muscle tone;
• More often affected by “minor illnesses” of viral origin, or other;
• Significant tendon laxity: which gives great flexibility!

Is there a link between motor development and cognitive development?

Children with Down syndrome who acquire motor skills more slowly are also more likely to have difficulties in acquiring cognitive skills.

And vice versa: those who have more ease in motor skills also have more cognitive ease.

Source: Malak, 2013

What are the consequences of Down syndrome on daily life?

By discussing with relatives of people with Down syndrome, three themes of concern come up most often (in addition to motor development, especially a source of questioning in the early years):

1. Degree of autonomy in adulthood (and education, which I will not address in this article);
2. Life expectancy;
3. The well-being of their relative with Down syndrome and their family.

I will detail these 4 points, relying as much as possible on published studies, which allow access to a much larger and more precise sample of people than a “simple” personal or professional experience. Studies conducted in “developed” countries.

I am not addressing the concerns of people with Down syndrome here because I have not noticed anything specific about this: if relatives often ask themselves the same questions, and different questions from those of children without disabilities, this is not the case for the people themselves… who ask the same questions as everyone else, or no particular questions, according to my experience.

Autonomy in Adulthood

The French association Trisomie 21 France conducts surveys on the autonomy of adults with Down syndrome through its departmental branches.

Here are some data from this survey:

WORK:

• 41% of respondents have a job:
  • 57% in ESAT;
  • 43% in mainstream employment:
    • mainly in the hotel/restaurant sector;
    • then in the cleaning, maintenance, or laundry sector;
    • or in packaging or handling;
  • 87% work less than 30 hours per week.

LIVING PLACE:

• 73% of respondents live with their parents (nearly 60% of respondents are 25 years old or younger. Only 10.5% of respondents are over 40 years old);
• 12.8% live alone, as a couple, or in shared housing;
• 14% live in a residence (or boarding school).

SOCIAL RELATIONS:

• 16.2% of respondents say they have many friends;
• 19.8% have no friends;
• the majority of respondents (64%) say they have a few friends;
• 33% of respondents over 40 are already in a romantic relationship.

LEISURE:

• The 5 most appreciated activities mentioned are:
  • Listening to music: 86%;
  • Watching TV: 64%;
  • Surfing the Internet: 60.5%;
  • Singing: 60.5%;
  • Cooking a good meal: 55.8%.

Here is an excerpt from how the association discusses these results, arguing based on other economic data from other countries:

“We consider that placement in a Medical-Educational Institute (IME) for a child under 12 should be a last resort option, carried out only at the request of parents and in the child’s interest, especially in cases of proven suffering of the child in mainstream school, and only after first trying to implement a whole range of alternative solutions.”

Association Trisomie 21

In Denmark, 1-2% of people with Down syndrome are married or have a child; they are more numerous in individuals with mosaic Down syndrome than with free and homogeneous trisomy (95% of cases) (Zhu 2014).

In the United States, at least one parent has stopped working in 40% of families with at least one child with Down syndrome. (Schieve 2012)

Life Expectancy

The life expectancy of people with Down syndrome has greatly increased in recent decades. Here is a graph illustrating it:

This graph shows that in the 2000s in the United States, people with Down syndrome, on average, lived to be around 45 to 50 years old, and some well beyond 60 years old. Whereas in the 1930s to 1970s, life expectancy was around 10 years.

These changes are mainly attributed to better care in the neonatal period for low birth weight babies or those with heart malformations.

This other graph shows that in 2008, in the United States, some people with Down syndrome were over 80 years old:

The average life expectancy of individuals born with Down syndrome in the 2020s likely around 50 to 60 years, or even longer.

Happiness, Well-being, Quality of Life: What do we know?

When one invests a lot to help a loved one acquire new skills and autonomy, it seems that it is done with the idea that it will improve their quality of life/happiness.

It seems logical a priori to think that all else being equal, a more autonomous person (not depending on others) is more likely to feel well.

There are dozens of studies that assess the quality of life of individuals with Down syndrome.

Here are the statements from a research team in the United Kingdom that synthesized knowledge about the quality of life in adulthood in 2023 (Ann Ijezie et al. 2023):

Only 7 studies (17.94%) indicate that adults with Down syndrome have a good quality of life centered on self-determination and interpersonal relationships.

Most adults with Down syndrome wanted to become more independent, have relationships, participate in community life, and exercise their fundamental rights.

The quality of life reported by adults with Down syndrome was considered higher than the quality of life reported by intermediaries (family, professionals).

Ann Ijezie 2023

And another team, this time from Argentina, did the same work but with children (Fernández Scotto 2023), using questionnaires and ways to assess quality of life specific to this age group:

This study showed that children aged 2 to 4 years with Down syndrome have a lower quality of life compared to their peers without Down syndrome. Especially in social and school spheres.

Fernández Scotto 2023

These results should not be interpreted as “we are necessarily unhappier” when we have Down syndrome. These are averages, statistical trends.

You will find many counterexamples of people with Down syndrome who are very fulfilled and happier than some people without any physical or mental disabilities.

Nevertheless, I know that it is important for some families to have access to the “real numbers” without feeling that something is being “hidden” from them to protect them.

What factors are most likely to affect the quality of life? Well, unsurprisingly, they are the same factors as in the general population. In adolescents, for example:

• feeling lonely, without friendship, or having fewer than 3 friends (compared to declaring having at least 3 friends);
• having multiple medical conditions and illnesses. (Haddad 2018)

Here are the factors found in children aged 5 to 12 with Down syndrome whose parents report a lower quality of life for their child (Fuca 2022):

• low IQ,
• poorer analogical reasoning,
• weaker adaptive skills,
• more frequent difficult behaviors,
• more ritualized/simulated behavior,
• more autistic symptoms.

What can explain these social difficulties sometimes, in addition to issues related to inclusion? Children and adults with Down syndrome tend to be more sociable, friendly, affectionate, empathetic, smiling, and have a good ability to build relationships.

They are also described as stubborn, unyielding, and approaching strangers inappropriately. (Windsperger 2021)

Again, these are trends, with people at both extremes.

This research team emphasizes this important point:

Although Down syndrome has been studied for a long time, i.e., for 155 years, it remains one of the least well-understood genetic syndromes.

The most important reason for this is the high degree of phenotypic variability observed in the Down syndrome population, a problem that professionals are often not aware of when discussing the diagnosis with prospective parents.

Outcome variables are not completely intact or uniformly altered throughout development but manifest as variations at an early stage, which can be amplified with age, ultimately constituting either a strength or a weakness.

Windsperger 2021

What rehabilitation for a person with Down syndrome and what to think about it?

Here is some information and reflections on the rehabilitation offered to individuals with Down syndrome, particularly in the United States.

Rehabilitation Approach in the United States

In the United States, rehabilitation sessions are prescribed and recommended for most babies and children born with Down syndrome.

In total, one can easily reach 100 to 200 medical or paramedical appointments per year, or even more.

This list (which is not exhaustive) can be daunting due to its length. Some families are delighted to be offered so many things, supervision, follow-up, and “stimulation.”

Others, on the contrary, question the relevance of so much monitoring and appointments, which can be difficult to honor, especially if one works alongside and has other children. They sometimes feel guilty for doing less than “they should.”

There is undoubtedly a balance to be found that is specific to your family, based on your own assessment of the benefits and constraints associated with these rehabilitation sessions.

Here are some points to consider on this topic, based on studies conducted on babies and children with Down syndrome exposed to more or less rehabilitation during their early years of life or adulthood.

May this information guide you in your decision to pursue more or less follow-up.

I have focused on physical therapy since it is the profession I practice.

Physical Therapy, Motor Rehabilitation: What to Expect?

As I mentioned earlier regarding the motor development of children with Down syndrome, although we do not have high-quality studies on this subject (it is very difficult methodologically and ethically to implement), it does not seem that children starting physical therapy early acquire motor milestones faster than others.

However, it seems coherent and empirically supported to think that the more a child (regardless of whether or not they have Down syndrome) is exposed to an environment that encourages movement, muscle engagement, and cardiovascular capacity, the faster (all else being equal) they develop on the motor level.

Ultimately, it does not matter who is behind the creation of this conducive environment:

• physical therapist,
• psychomotor therapist,
• sports teacher,
• parent, teacher, etc.

Some children will be more receptive to certain approaches than others. Some families will prefer to delegate, while others will prefer to independently create situations conducive to movement.

Others may decide not to dwell too much on this subject because thinking about it weighs on them and adds a mental burden that is difficult to bear in an already busy daily life.

A study compares the effect of two major types of physical therapy often proposed: exercises aimed at neuro-muscular solicitation on different surfaces versus treadmill training (5 times a week for 6-8 minutes). The research team does not observe a difference in the effectiveness of the intervention. Source: Rodríguez-Grande 2022

Here are some ideas for conducive environments that are relatively easy to access.

Before the child crawls:

• Place them on their back or stomach on different types of secure surfaces (floor mats, bed, secure sofa, grass, etc.);
• Vary the toys you place around them;
• Interact with them by lying down beside them;
• Allow other babies, children, or animals to interact with them (while securing the environment, of course).

Once the child can crawl or walk:

• Vary the visited play areas for children;
• Go to the beach (sand, pebbles), on beach volleyball courts (sand);
• Swimming pool;
• Let the child explore all parts of your home, even the most unlikely ones, as long as they are secure;
• Indoor playrooms (with ball pits, large cushions to climb);
• some restaurants or fast-food establishments also offer play areas of this type.

There isn’t one or a few exercises that are better than others for individuals with Down syndrome; just types of environments and situations that encourage movement and enjoyment in movement.

Some physical therapists rely on rehabilitation methods with specific names: Medek, Tomatis, neurobiofeedback, etc. The general principles remain the same: provide a “stimulating” environment conducive to motor activities.

The challenge is to ensure that the baby or child acquires functional abilities that are useful and applicable in their daily life, not just during rehabilitation sessions (Sugimoto 2016).

These situations are suggestions, and you won’t be a “bad parent” if you don’t find the energy to create this living environment. Your child and your family may not necessarily be less fulfilled and comfortable than another.