In this next section on the chapter on “Down syndrome”, I describe some of the common physical characteristics associated with the condition. This part ends on a tough note.
Beyond intellectual disability, most people also associate Down syndrome with the distinctive facial features most people with Down syndrome share, particularly the eyes. A common shared trait is what are called “epicanthal folds” which give the eyes a distinctive almond shape. No doubt this was one of the symptoms that Dr. Down noticed that led him to link the condition to the Asian ethnicity of Mongolians.
The shape of the eyes of individuals with Down syndrome is something that parents of children with Down syndrome often write about. Katheryn Lenard Soper collected essays from mothers and edited them into a collection titled Gifts: Mothers Reflect on how Children with Down Syndrome Enrich Their Lives. Writing about her collection, she noted how often mothers wrote about their children’s almond-shaped eyes. A poet and writer, George Estreich, titled his memoir about his daughter Laura, The Shape of the Eye.
There are other, subtler physical characteristics associated with Down syndrome as well. Going from head-to-toe, these are some of the physical traits shared by many with Down syndrome:
- Smaller-than-average heads with a flatter back of the head than most people.
- Again with the eyes: “Brushfield spots,” bright, white speckles in the irises (again, named after Dr. Thomas Brushfield who first described them in 1924).
- Broad, flattened noses with a small bridge.
- Protruding tongues, the result due to many individuals with Down syndrome having average-sized tongues, but smaller-than-average mouths.
- Short, thick necks.
- Rounded shoulders.
- Shorter than average long bones, i.e. the humerus, or upper arm, and the femur, the thigh bone.
- A single palmer crease, once, and sometimes, unfortunately, still occasionally called a “simian crease”—a single, straight line across the palm, rather than the three curved lines like most people have across their palms (though several celebrities have a single palmer crease on one or both hands).
- Clinodactyly, or a smaller than average pinky that often curves inward.
- A thong-gap between the big and second toe.
Many of these characteristics are explained in part by the hypotonality I mentioned in the very first chapter. As Dr. Lejeune put it, “the tender languor” of the body of individuals with Down syndrome is due to low muscle tone that many individuals have, Juliet included. This low muscle tone accounts for the single palmer crease, as the hand in the womb closes more as a flap rather than rounding the fingers into a fist, resulting in a single crease. Similarly, the rounded shoulders are “without any asperities or stiffness” as Dr. Lejeune described.
This low muscle tone also can account for another physical trait many people with Down syndrome share and are associated with: obesity. The hypotonality impacts both intake and output. The body fails to provide the necessary feedback to tell the person they are full and no longer need to eat, but at the same time, physical effort of any kind is simply harder than for most people. Given that combination, it is not surprising that managing weight is a struggle.
Many of the physical characteristics are also termed “soft markers” for prenatal indications of the condition: lack of a fetal nasal bone, hence the lack of a bridge to the nose; the shorter long bones of the body; the small pinky; and, as mentioned when discussing the nuchal translucency test in Chapter Two, the thicker neck. None of these on their own are considered accurate screens for Down syndrome and even taken together they are not recognized as being accurate in and of themselves. But, coupled with other screening findings, these soft markers can justify counseling an expectant mother that they may want to prepare for the possibility that their child has Down syndrome.
I’ve described the external physical traits, now here are some of the internal, again, going from head-to-toe.
The flatness of the back of the head that many individuals with Down syndrome have is due in part to a smaller-than-average cerebellum. The cerebellum receives sensory impulses and regulates physical activity and coordination, to include speech. The specific impact of the smaller-than-average cerebellum in individuals with Down syndrome is still being researched as part of potential treatments to be discussed in the final chapter.
Individuals with Down syndrome also often have smaller than average sinuses and eustachian tubes. This can lead to chronic sinus and ear infections, sleep apnea, and possible hearing loss. Each of these health issues can be misinterpreted as a sign of the individual’s intellectual disability for the child not responding when being talked to or being irritable, when, in actuality, she may have trouble hearing or is not getting a good night’s sleep.
The American Academy of Pediatrics publishes healthcare guidelines for individuals with Down syndrome. Included within these recommendations is to have the thyroid tested annually. Individuals with Down syndrome are more prone to hypothyroidism, which again depresses the metabolism, and is yet another contributing factor to struggling to maintain a healthy weight.
Atlantoaxial instability is where the base of the skull (the “Atlas”) connects with the neck (the “Axis”). Many individuals with Down syndrome can have an instability in this joint connection which can lead to incontinence and even paralysis. For this reason, Special Olympics requires an x-ray report clearing individuals from having this condition and is something that the AAP guidelines recommend screening for initially after age three, and then again only if symptoms associated with the condition manifest.
Esophageal atresia and duodenal atresia are two gastrointestinal malformations that babies with Down syndrome are born with at a higher than average rate. This is not to suggest that this is a common-occurring condition, but it is one for expectant and new parents to be aware of. These conditions occur when either the esophagus is formed disconnected from the stomach or the stomach is not connected to the intestines. Fortunately, these conditions can be corrected surgically with a greater-than 90% success rate.
Unfortunately, Dr. Owens was the doctor who delivered a baby boy with Down syndrome and the boy also had a disconnected esophagus. Due to Dr. Owens’ views on the relative low quality of life that he expected for anyone with Down syndrome, he counseled the boy’s parents to not consent to surgery for Baby Doe. Concerned advocates sued (hence the boy being referred to as “Baby Doe”) to mandate that the child receive medical care. A hearing was held and a judge sided with Dr. Owens, reasoning:
[T]he Court finds that the State has failed to show that this child’s physical or mental condition is seriously impaired or seriously endangered as a result of the inability, refusal, or neglect of his parents to supply the child with necessary food and medical care.
Six days after birth, Baby Doe died in the corner of a hospital maternity ward from the acid in his stomach corroding his lungs.
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