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Case in Progress

Cameron continues to grow

Cameron is a beautiful 18 months old little girl with Down Syndrome. You may have been introduced to Cameron in June of 1998, just following her surgery at Children’s Hospital, Los Angeles to repair the heart defect that she was born with - endocardial cushion defect and small patent ductus arteriosis (PDA). The surgery is a year in the past, and her progress has been good and steady.

Cameron is now the middle daughter to her family, with a new baby sister born in March 1999. Her mother and father did not have prior knowledge that she would be born with Down Syndrome, which was observed at the birth. Also at her birth it was discovered that she had the endocardial cushionheart defect. She spent one week in the NICU because the blood vessels in her heart were not transitioning from the birth and she was not getting enough oxygen. At the end of this first week she was able to go home with her parents and older sister.

Her parents contacted their local agency to request early intervention services for Cameron. By the time Cameron was 2 months old she was receiving physical therapy. Her mother quickly learned quickly about her diagnosis of Down Syndrome and some the typical difficulties these children must face. Their conscientious participation and follow through with therapy contributed to Cameron’s quick post-operative recovery.

At 9 months (36 weeks) of age, 3 months after her heart surgery her skills ranged from 22 to 32 weeks. Her areas of strength were social emotional skills and fine motor skills. Communication and cognitive skills are continuing to progress while acquiring gross motor skills was becoming more difficult. She was experiencing some difficulty with progressing to solids from the bottle. Her mother began to work on more independent feeding with the bottle, and then introduces a cup to Cameron. Spoon feeding was addressed during intervention as it was a priority for the parents. Cameron had her vision examined at this time and was found to have an astigmatism, but was not prescribed glasses at this time. She will be re-examined when she is 2 years old and may require glasses at that time. Her muscle tone continued to be slightly low and she was using some fixing postures to compensate, such as locking her knees into extension to help her sit.

Physical therapy continued weekly and she resumed child education to address the areas of cognitive, visual- perceptual and fine motor skills. Cameron began sitting alone, and was able to reach forward, obtain a toy and re-erect herself before her first birthday. She also was able to take solids well from a spoon, drink from a cup for a portion of her liquids, bite and chew, and feed herself a cracker. All of these contributed to her oral-motor development which is a pre-requisite for oral language. Overall, at the age of 52 weeks, her skills were at 40 weeks. Everyone was very pleased with her progress, but there was still much to work on. Her parents were looking forward to her being able to crawl, walk, and speak!

Just after Cameron’s first birthday in November, she began to "commando crawl". This is a crawl whereby the child uses his arms to drag his body forward, but the stomach remains on the ground. She remains quite proficient at this method of mobility, and we are still encouraging her to quadruped crawl (hands and knees). At this time, when she is changing from sit to the crawl, she is getting into quadruped for a few crawls before going into a commando crawl mode. It is typical for children with lower muscle tone to have difficulty with movements requiring holding themselves off the floor. Additionally, crawling necessitates coordination of all four limbs while the child is most likely concentrating on "getting somewhere".

In terms of language, Cameron can say "mama", "dada", and "kitty". She has been working with a speech/language therapist since she was 15 months old, on a twice a month basis. The focus of speech therapy is on her oral-motor development, especially the area of tongue-thrusting. This is a familiar posture with many Down Syndrome children. It was once thought that children with Down Syndrome had atypically large tongues, but this is not true. While the tongue appears slightly thick, this is due to the low muscle tone. Additionally, these children frequently have a smaller than average oral cavity. This is the case for Cameron. She uses her tongue almost as a finger - to touch and to taste and to feel an object. The speech/language therapist has worked closely with Mom to use different methods and objects (such as gum simulators and toothbrushes) to desensitize Cameron’s tongue. Cameron’s family and therapists also request her to "put your tongue in" - a command that she will follow some of the time.

In the past six months, Cameron has made wonderful progress. She has met many of her goals - commando crawling and beginning to pull herself to stand against the furniture. She is using her "words" - including the signs for "more" and "up". She will share her toys, and loves to see how things work - examining each toy to see "how does it do that". She loves books, balls and toys that make noise. She loves to laugh and give kisses in the air. Cameron is participating weekly in the "Pediatric Services Swim Team" - where she can experience movement without gravity in the warm pool and other sensory and water safety concepts.

One of the most important things that has happened to Cameron in the last few months is that she became a "big sister". Cameron will gently touch the "dada" (her word for baby), and likes to "help" change her diaper. She still isn’t sure about sharing the baby with Mom. We are happy to reassure her Mother that this is quite age appropriate behavior for any 18-month old!

Cameron continues to grow and thrive. She is a great joy to all who know her. We look forward to the next six months of intervention. We anticipate her meeting many developmental milestone, learn many new words, walk and assert some new found independence. We will let you know how she is doing then.

If you are interested in meeting other parents and individuals who are involved in raising a child with Down syndrome, the following listservs are available:

Down Syndrome List - Send an e-mail to [email protected], leave the subject field blank, and in the body of the e-mail type the words "subscribe down-syn" (without the quotes), followed by your first and last name. You will then receive a confirmation.

If you would like some general information about Down Syndrome, please read on.

"A Look at Down Syndrome" (Taken from the current online Special Child Magazine) http://www.specialchild.com/disorder.html.

Down syndrome (DS) is a genetic disorder that is caused by an extra chromosome 21 that is present in all or some of the individual's cells. There are three types of chromosome abnormalities in Down syndrome. The first is called trisomy 21 and is the most common form of DS. With trisomy 21, the individual has an extra chromosome 21, which results in a total of 47 chromosomes in each cell rather than the typical 46. The second is called mosaicism and is the least common form of DS. In this case, only some of the cells contain 47 chromosomes, while the other cells contain an accurate 46. The third type is called translocation where the extra chromosome attaches (or translocates) to a different chromosome, such as 14 or 22.

The additional chromosome is almost always the result of faulty cell division, in either the egg or sperm, resulting in 3 chromosome 21s (2 from the egg and 1 from the sperm, or vice-versa). Though the extra chromosome could come from either the father or the mother, only 5% of the cases have been traced to the father. Women age 35 years and older have a significantly increased chance of having a child with DS, however, 80% of children born with DS are actually born to mothers under the age of 35 years due to higher fertility rates.

DS is one of the most common chromosome abnormalities. It is estimated that the incidence is between 1 in 800 to 1,000 live births. There are approximately 350,000 individuals in the United States with DS. It occurs in all racial, ethnic, and socioeconomic groups. Recent research shows that slightly more males than females are born with DS in comparison with the general population.

Down syndrome was first accurately described in 1866 by an English physician named John Langdon Down. Then, in 1959, a French physician named Jerome Lejeune identified Down syndrome as a chromosome anomaly. It was Lejeune who observed 47 chromosomes in individuals with DS, rather than 46 chromosomes.

The cause of DS is not known, however, some experts believe that hormonal abnormalities, x-rays, viral infections, immunological problems, or genetic predisposition may be the cause of improper cell division, resulting in the syndrome. What is known, however, is that the extra chromosome 21 causes an extra dose of some proteins, which causes the typical features of the syndrome. In addition, it should be noted that DS is not the result of something that either parent did or did not do.

Features and Characteristics

There are many physical characteristics that are associated with DS. Not every individual has all the characteristics, however, the following is a list of the most common traits:

Low muscle tone
Flat facial profile (depressed nasal bridge and small nose)
Flattening of the back of the head
Small hands and feet
An upward slant of the eyes
An abnormal shape of the ear
A single deep crease across the center of the palm
An excessive ability to extend the joints
Fifth finger has one flexion furrow instead of two
Small skin folds on the inner corner of the eyes
Excessive space between large and second toe
Enlargement of tongue in relation to the size of the mouth
Mental retardation (can range from very mild to severe, however, is typically mild to moderate)
Speech delays
Short stature

In addition to the common characteristics, a child with DS may also have the following medical issues:

Congenital heart defects
Increased susceptibility to infection
Respiratory problems
Obstructed digestive tracts
Hearing deficits
Eye problems such as cataracts and strabismus
Failure to thrive in infancy and obesity in adolescence
Thyroid dysfunctions
Skeletal problems (hip dislocations, atlantoaxial instability)
Increased risk of developing Alzheimer's disease (over age 35) and leukemia

Diagnosis

Generally, when a child is born with Down syndrome, the appearance of the child is the first indication that he or she may have the disorder. Therefore, a chromosome analysis is conducted which looks for three chromosome 21s or variants as described above. It can also be diagnosed prenatally by either an amniocentesis or chorionic villus sampling.

Treatment

There is no cure for DS, however, early intervention programs, preschools, and integrated education can be very beneficial for the child with DS. With the proper education, many children with DS will learn to read, write, and participate in school activities. In addition to receiving an early education, children with DS may benefit from several therapies as well. Due to the delays in speech that are commonly seen in children with down syndrome, speech therapy is beneficial. The speech pathologist should emphasize adequate development of oral muscles used in feeding and speech articulation, and to focus on developing expressive and receptive skills to enhance communicative functioning. Due to the low tone found in children with DS, physical therapy may be useful in improving gross motor skills such as sitting and walking and improving postural alignment. Finally, children with DS may also benefit from occupational therapy to develop fine-motor skills, self help skills, upper extremity strength, and coordination.

What to Expect

Children with DS can usually do what "typical" children can do, such as walk, talk, play, dress themselves, potty train, etc., however, they generally do these things later than other children. Individuals with Down syndrome should be a part of the community; they strive to accomplish goals just like everyone else. They go to school, have jobs and enjoy leisure activities. Organizations, (i.e., banks, corporations, restaurants, entertainment firms, and computer organizations) actively seek young adults with DS for employment. People with DS bring to their jobs enthusiasm, reliability, and dedication.

Many adults with DS form relationships with others and some even marry. Women with Down syndrome are fertile and can have children; men are believed to be sterile. The life expectancy of an individual with Down syndrome is 55 years.

Suggested Readings

Babies with Down Syndrome- A New Parent’s Guide, Edited by Karen Stray Gundersen, Woodbine House
Keys to Parenting a Child with Down Syndrome, by Marlene Targ Brill
Teaching Your Down’s Syndrome Infant: A Guide for Parents and Professionals, by Marci J Hanson
Communication Skills in Children with Down Syndrome: A Guide for Parents, Woodbine House
The Language of Toys, Sue Schwartz, and Joan Heller Miller, Woodbine House
Child of Mine: Feeding with Love and Good Sense, Ellyn Satter, Bull Publishing Company
How to Get Your Kid to Eat....but Not Too Much, Ellyn Satter, Bull Publishing Company
Keys to Parenting a Child with Down Syndrome, by Marlene Targ Brill
The Early Intervention Dictionary: A Mutidisciplinary Guide to Terminlology, Jeanine Coleman, Woodbine House, 1993
Time to Begin: Early Education for Children with Down Syndrome, by Valentine Dmitriev, Caring Inc. 1982
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Last modified: January 26, 2013