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Down Syndrome in Children and Teens: Supporting Health, Development and Independence · Flourish- A Prisma Health Podcast

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  Scott Webb (Host): Between 5,000 and 6,000 babies are born with Down syndrome
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  in the United States every year.
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  And my guest today is here to discuss the different types of Down
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  syndrome and how we can best help children and adolescents with Down's.
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  I'm joined today by Dr.
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  Jennifer Carney.
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  She's a pediatrician with Prisma Health.
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  This is Flourish, the podcast brought to you by Prisma Health.
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  I'm Scott Webb.
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  Doctor, nice to have you here today.
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  We're going to talk about Down syndrome in children and adolescents, and maybe
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  we should just have some foundation here like what is Down syndrome?
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  What are some of the common characteristics that parents
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  may notice, let's say, at birth or maybe in early childhood.
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  Dr. Jennifer Carney:
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  Sure.
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  Down syndrome or trisomy 21 is one of the most common genetic variations and
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  occurs in approximately one in every 700 live births In the United States.
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  For most people, each cell in the body has twenty-three pairs of chromosomes.
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  One chromosome in each pair comes from the mother, and the
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  other comes from the father.
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  But sometimes during cell division, an extra copy of the 21st chromosome
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  is present, and this additional genetic material alters the course of
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  development and causes characteristics associated with Down syndrome.
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  There's actually three types of Down syndrome, and I'll
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  go over them really briefly.
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  The most common type is the nondisjunction trisomy 21, and this
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  is where an embryo has three copies of trisomy 21 instead of the usual two.
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  And as the embryo develops, the extra chromosome is replicated
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  in every cell in the body.
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  And this type of Down syndrome accounts for about 95% of cases of Down syndrome.
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  But there's also something called mosaic Down syndrome, and that's diagnosed
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  when there is a mixture of two types of cells, some containing the usual
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  46 chromosome and some containing 47.
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  And those cells with 47 chromosomes contain an extra chromosome 21.
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  Mosaic Down syndrome is the least common form of Down syndrome, and it
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  accounts for only about 2% of all cases.
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  And then, finally, there's translocation, and that accounts for
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  about 3% of cases of Down syndrome.
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  And that's where the total number of chromosomes in the cells remain 46.
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  However, an additional full or partial copy of chromosome 21
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  attaches to another chromosome.
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  Usually, it's number fourteen.
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  And the presence of the extra full or partial chromosome 21 causes the
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  characteristics of Down syndrome.
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  But regardless of the type of Down syndrome a person may have, all people
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  with Down syndrome have an extra critical portion of chromosome 21
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  present in all or some of their cells.
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  And then, a few common physical traits of Down syndrome are low muscle tone, smaller
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  or shorter stature, an upward slant to the eyes, looser joints, a flattened nasal
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  bridge, a larger tongue, and a single deep crease across the center of the palm.
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  And these are just some of the characteristics that we see.
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  Individuals with Down syndrome possess varying degrees of cognitive
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  delays from very mild to severe.
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  And it's important to remember that each person with Down syndrome is a
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  unique individual and may possess these characteristics to different degrees.
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  Host: Sure.
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  Yeah, and you mentioned embryos there, and it made me wonder, a light bulb
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  over my head, if you will, can Down syndrome be detected before birth?
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  And what factors may increase the likelihood of a child
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  being born with Down's?
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  Dr. Jennifer Carney:
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  Absolutely.
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  So prenatally, there are screens that estimate the chance of a
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  fetus having Down syndrome, and these tests provide a probability.
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  There is an extensive menu of prenatal screening tests now
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  available for pregnant patients.
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  The blood tests measure quantities of various substances
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  in the blood of the mother.
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  And together with the woman's age, these are used to estimate her chance
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  of having a child with Down syndrome.
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  The blood tests are often performed in conjunction with a detailed ultrasound
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  to check for physical features that are associated with Down syndrome.
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  And there are newer advanced non-invasive prenatal screens now that involve
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  blood that looks for, it's called cell-free DNA, that circulates between
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  the fetus and the expectant mother.
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  There's also diagnostic procedures available for prenatal diagnosis of
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  Down syndrome, and that's where we do something called the chorionic villus
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  sampling or CVS and amniocentesis.
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  And these procedures, which are nearly 100% accurate in diagnosing Down
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  syndrome, carry up to about 1% risk of causing a spontaneous termination.
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  However, at birth, a chromosomal analysis called a karyotype is
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  done to confirm the diagnosis.
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  And then, advanced maternal age, especially being thirty-five or
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  over, is a primary factor that increases the likelihood of
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  having a child with Down syndrome.
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  However, the majority of babies with Down syndrome are still born to mothers
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  less than thirty-five years old, simply because there are many more
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  births among younger women in general.
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  Host: Sure.
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  Yeah, and you mentioned some of the common health conditions in children with Down's.
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  Wondering about routine screenings and maybe preventative care and why
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  they're so important as they grow.
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  Dr. Jennifer Carney:
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  Yeah.
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  So, children with Down syndrome are at an increased risk of several medical
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  conditions and developmental challenges.
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  Some common medical conditions are congenital heart disease, hearing loss,
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  vision issues, obstructive sleep apnea, thyroid problems, gastrointestinal
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  disorders, feeding and swallowing difficulties, immune dysfunction, blood
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  disorders, and like orthopedic conditions.
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  So, there are many health conditions that are associated with Down syndrome.
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  And there are several developmental and learning challenges such as gross and
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  fine motor delay, speech delay, attention and executive functioning issues, issues
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  with sensory processing, intellectual disability, typically mild to moderate,
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  and delays with adaptive functioning.
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  Also, autism spectrum disorder is estimated to occur in about 7% to
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  19% of children with Down syndrome.
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  However, children with Down syndrome can make tremendous developmental progress
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  when they receive individual therapies, early intervention, and family support.
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  So, some of the therapies that we have available are physical therapy,
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  which can help with the lower tone.
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  It can help with strength, balance, posture, coordination.
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  Children can be in occupational therapy, which supports fine motor development,
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  sensory regulation, activities of daily living, and then speech and
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  language therapy, which helps develop receptive and expressive language
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  and speech clarity, and also to help with the use of signing as well.
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  And feeding and swallowing therapy, which can address oral motor skills
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  and then early childhood developmental intervention, which uses play-based
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  therapy, and learning to support cognitive, attention and problem-solving.
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  Early intervention should begin as soon as possible, but children and
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  adolescents continue to benefit from therapy, education, and developmental
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  support throughout their lives
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  Host: Right.
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  Yeah.
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  So, routine screenings, preventative care, lots of, you know, therapy
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  interventions, lots of good stuff, lots of resources out there for
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  parents and children with Down's.
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  And just wondering when we think about school, social development for
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  children with Down syndrome, you know, let's talk a little bit about building
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  friendships, participating alongside their peers, all of that stuff.
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  Dr. Jennifer Carney:
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  Absolutely.
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  So, children with Down syndrome can develop meaningful friendships.
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  They can succeed in school, participate in sports and activities.
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  And every child with Down syndrome has unique strengths, abilities,
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  interests, and developmental needs.
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  Additional supports may be needed in learning in academics, speech and
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  communication, attention and memory, reading, mathematics, and independence.
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  But there are many programs out there that can help children
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  with Down syndrome succeed.
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  An IEP or an individualized educational program can help
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  provide specialized instruction.
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  Speech therapy, occupational therapy, physical therapy, classroom accommodations
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  are all based on what the child will need.
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  And then, inclusive education can create valuable opportunities
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  for academic learning, peer interaction, and participation
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  in everyday school activities.
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  And children with Down syndrome have the same fundamental need
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  for friendship, belonging, and acceptance and companionship.
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  Having Down syndrome does not prevent a child from learning,
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  developing meaningful friendships, or experiencing a fulfilling social life.
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  Host: Right.
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  Yeah, I mentioned to you that my nephew has Down syndrome, and I can
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  remember him as he began to make friends and build friendships, and
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  he's still friends with many of those kids even though he's in his mid-20s.
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  So, you're so right, at least in my, you know, sort of personal
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  anecdotal version of this.
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  Wondering for parents, you know, as a child with Down syndrome goes into
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  puberty and adolescence, tough enough for all parents and all kiddos, right?
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  Are there particular health or developmental concerns
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  during those teen years?
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  Dr. Jennifer Carney:
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  Sure.
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  So, most children with Down syndrome experience the same physical changes,
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  hormonal changes, sexual feelings, and desire for independence as
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  their typically developing peers.
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  However, they just may need some additional support understanding
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  these changes, managing personal hygiene, navigating relationships,
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  and developing independence.
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  Puberty generally begins at a similar age to that of a typically developing child.
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  And it's also important to remember that adolescents with Down syndrome
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  should be supported as teenagers and not treated as younger children.
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  Adolescents with Down syndrome experience many of the same emotional and social
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  changes as other teenagers, and parents can help by providing developmentally
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  appropriate education about relationships, consent, personal boundaries, online
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  safety, and healthy sexuality.
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  One of the things that can be really helpful are the use of visual
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  cues, and that can be very helpful in teaching children who have
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  syndrome about the teenage years.
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  And during the teenage years, it's still important to monitor for thyroid
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  disease, sleep apnea, obesity, metabolic health, mental health, hearing and
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  vision, monitoring for celiac disease, menstrual changes and concerns, and
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  orthopedic and neurologic concerns like we do when the kids are younger.
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  It is still important to monitor that as they get a little bit older as well, too.
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  And then, I did want to mention an important condition that is
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  uncommon, but it is worth mentioning.
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  It typically develops during adolescence or young adulthood, is something called
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  the Down syndrome regressive disorder.
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  And it involves a significant loss of previously acquired skills and should
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  never be dismissed as being a normal part of puberty or Down syndrome.
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  So if you have a child who has Down syndrome that was acquiring skills
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  and then has a sudden loss of skills, that always puts up a red flag for us.
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  But then, adolescence is also the ideal time to begin preparing for adult life.
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  Host: Yeah, and that's kind of where I wanted to finish up today.
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  As they get close to adulthood and being adults, just wondering how
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  parents, pediatricians, you know, can help children with Down's develop
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  independence, build healthy relationships, prepare for greater independence,
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  hopefully, as they approach adulthood?
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  Dr. Jennifer Carney:
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  It's important to encourage independence in everyday life by teaching personal
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  care, like how to shower, dress, how to shave, and other daily routines
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  by using like a visual schedule or step-by-step instruction, and
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  then repetition with everything.
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  Also, to encourage household responsibilities, so chores, and engaging
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  in community participation, such as like ordering food or making purchases.
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  These are all important things to teach children and adolescents
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  with Down syndrome so they can become more independent, and they
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  build that confidence, and they build that understanding over time.
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  And then, parents can encourage participation in inclusive
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  sports and clubs, art classes, community programs, et cetera.
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  And they can also help build healthy relationships, with other children and
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  adolescents, and they can support healthy daily habits by teaching the differences
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  between friends and acquaintances, romantic partners, and trusted adults.
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  So, just understanding the differences between those.
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  And it's important to provide very clear, age-appropriate sexuality education.
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  So, it should be an ongoing conversation.
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  And teens with Down syndrome benefit from an accurate, straightforward explanation.
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  And again, the visual materials or visual cues can be very helpful
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  with this and as well as social stories and repeated conversations.
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  And they can make these concepts easier to understand.
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  And it's also so important to teach consent and personal safety.
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  Teens with Down syndrome have the same fundamental needs for friendship,
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  affection, belonging, and independence as other adolescents and parents
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  can support healthy development by encouraging age-appropriate independence,
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  providing those opportunities for friendships and dating, teaching
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  personal boundaries and consent, and offering clear, ongoing sexual education.
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  Host: Right.
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  Yeah, good stuff today.
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  I appreciate this conversation.
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  I said to you as we got rolling here, you know, I have a little, you know,
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  personal connection to this, and my kids definitely could have learned
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  from my nephew with Down's about things like cleaning their room.
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  My nephew has the cleanest room ever, and my kids not so much.
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  But appreciate your time, your expertise today, your compassion.
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  Thank you so much.
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  Dr. Jennifer Carney:
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  Yeah.
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  Thank you for having me.
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  I really appreciate it.
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  Host: For more information and other podcasts just like this one, head
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  on over to prismahealth.org/podcast.
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  This has been Flourish, a podcast brought to you by Prisma Health.
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  I'm Scott Webb.
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  Stay well.