What is Down syndrome?

In every cell in the human body, there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all. (2022)

Physical Therapy and Down syndrome

Physical therapists work with individuals with Down syndrome from infancy through adulthood to help them function at their maximum potential and lead healthy, productive lives.

The goal of physical therapy for children with Down syndrome is not to accelerate the rate of their development, as is often presumed, but to facilitate the development of optimal movement patterns. This means that over the long term, you want to help the child develop good posture, proper foot alignment, an efficient walking pattern, and a good physical foundation for exercise throughout life. (Winders)

Occupational Therapy and Down syndrome

Occupational therapists who work with children have education and training in child development, neurology, medical conditions, psychosocial development, and therapeutic techniques. Occupational therapists focus on the child’s ability to master skills for independence. (Bruni) These can include:

  • Self-care skills (feeding, dressing, grooming, etc.)
  • Fine and gross motor skills
  • Skills related to school performance (i.e.: printing, cutting, etc.)
  • Play and leisure skills

OT services can be obtained through Early Childhood Intervention programs, public and private schools, and private therapists.

Speech-Language Therapy and Down syndrome

Early interventions with speech therapy and feeding therapy can help children with Down syndrome expand their vocabulary and widen their repertoire of language. Children between the ages of 5 and 11-years require the active intervention of an SLP along with support from their families. Therapy for children with Down syndrome in this case should consist of a plan that targets all four areas – speech, grammar, vocabulary, and communication skills. Individuals with Down syndrome can become independent adults through learning a variety of skills:

  • Self-feeding and dressing skills
  • Communicating wants, needs, humor
  • Building relationships with others
  • Negotiating terms in work-life
  • Play sports/be a part of a team
  • Learning skills specific to their interests, hobbies, or chosen fields of work
  • Starting their own business
  • Advocating for needs in the community and/or at work
  • Setting goals and taking the steps to meet them
  • Living independently or in group homes
  • Responsibilities such as paying bills, saving money, planning daily activities, scheduling time to work vs time with friends/family

What can we do?

  • As a business owner, provide opportunities for individuals to obtain employment/internships with you
  • Encourage independence in discovering interests/hobbies
  • Treat everyone with respect helps build confidence and self-esteem
  • Include everyone in the decision-making process, especially when it is about that individual
  • Support relationships with anyone, regardless of differences and abilities – we’re all human and need to socialize
  • Focus on the things we do well vs what we aren’t good at
  • Allow room for “errorless learning” – our mistakes ultimately allow us to learn valuable lessons
  • Be a role model – treat all people with respect, allow mistakes, demonstrate strengths and strengthen weaknesses, praise everyone for the positive impacts they have on the world
  • Encourage learning daily skills – eating healthy, hygiene, sharing feelings, engaging in conversations, money skills, maintaining friendships
  • Participate in community awareness activities; (National Down Syndrome Society Buddy Walk Program; Gigi’s Playhouse is a place community involvement, resources from birth through adulthood that guide individuals and their families through growth, education, and employment needs; State of Ohio Department of Developmental Disabilities — has several links, articles and other resources available to individuals and their families)
  • Quality educational programs, a stimulating home environment, good health care, and positive support from family, friends, and the community enable people with Down syndrome to lead fulfilling and productive lives.

 

References About Down Syndrome. (2022). Retrieved from NDSS: https://www.ndss.org/about-down-syndrome/down-syndrome/

Bruni, M. (n.d.). Occupational Therapy and Down Syndrome. Retrieved from NDSS: https://www.ndss.org/resources/occupational-therapy-down-syndrome/

Winders, P. C. (n.d.). Physical Therapy & Down Syndrome. Retrieved from NDSS: https://www.ndss.org/resources/physical-therapy-down-syndrome/

Photos by Rock and Lamb Photography

 

Marla

Meet Marla!

We asked Maggie, Marla’s mom what she would like people to know about Marla and share a little of her story, and here is what she said:

“I would love the world to know Marla is captivating. She is a smart, beautiful, and driven girl that happens to have Down Syndrome. Her beauty will take your breath away. Her infectious smile will melt you. Her quirks and sassy personality will make you giggle for days. She is a gooey bundle of love, hugs, and sunshine. She is the best teacher. She truly brings our family pure, never-ending joy.

Marla comes with needs like every child. She requires us to show up, be prepared, and do our best. We are her advocate until she can be her own. She works very hard and plays even harder. She has a wonderful care team packed full of amazing therapists and medical professionals to make sure her needs and goals are being met. Shannon Reardon, PT with P.T. Services Rehabilitation, Inc. has been with us since the beginning of Marla’s journey. She has brought unmatched experience and knowledge to our home every single week. She has been a huge part of Marla’s success and we can not thank her enough.

Marla was born medically complex, a true miracle. She has Translocation Down Syndrome and Turner Syndrome. She also has congenital heart disease (a complete AVSD and Tetralogy of Fallot). She has bravely and fiercely fought all her battles. She continues to amaze and entertain us every single day.

We are so proud of her. We are so lucky and grateful that God chose Marla to complete our family.

– Maggie O.