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There is not as much specific data on the behavioral aspects of individuals with deletion 22q13 as there is in other areas. Many of the behaviors listed below were brought up in parent sharing sessions. One parent would explain a particular behavior and many others would say they have observed it with their child too. Due to this, there is only one behavior with a known percentage showing what portion of the deletion population exhibit it.
Some behavioral characteristics:
- Chewing on non food items (clothing, bedding, toys) – 70%
- Teeth grinding
- Tongue thrusting
- Hair pulling
- Aversion to clothes
Dr. Desmond Kelly compiled this list of attributes also saying many children outgrow the behaviors.
Avoidance Strategies:
- Show anxiety in social situations
- Sometimes flap arms and hands/ repetitive movements
- Scream when excited
- Self stimulatory behavior, rocking
- Bite and/or hit themselves
- Sleep problems (many require fewer than normal hours of sleep, many don’t sleep through the night)
- Enjoy TV, music, movies that are repetitive
Many children fall somewhere in the autism spectrum in terms of their behavior. There is debate as to whether these children are autistic and have a chromosome abnormality or if having deletion 22q13 negates an autistic diagnosis. “Autistic-like” traits that the deletion population may exhibit are poor eye contact, tactile sensitivity, and communications issues, as well as some listed above and others.
Some of these behaviors can be regarded as possible adaptations to physical abnormalities these individuals face. Many children with this deletion have vision issues causing them to rely on their peripheral vision. This would in turn translate to not looking people in the eye, when in reality they might be looking at people using their peripheral vision because that is the easiest way for them to see.
Finally, individuals with deletion 22q13 are able to express a wide range of emotions including joy, happiness, and love.
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The physical characteristics of people with 22q13 Deletion Syndrome are varied. While some chromosome abnormalities have noticeable and specific features that are readily apparent, that is not the case with 22q13 Deletion. There are some characteristic facial features but they are difficult to recognize, especially in infants and small children.
Visual characteristics of people with 22q13 Deletion are as follows:
| Thin, flaky toenails: |
78% |
| Large, fleshy hands: |
68% |
| Prominent, poorly formed ears: |
65% |
| Pointed chin: |
62% |
| Dolicocephaly (elongated head): |
57% |
| Ptosis (droopy eyelids): |
57% |
The following visual, physical attributes are experienced by less than half of the 22q13 Deletion population, or the percentage is not known.
- Long eye lashes
- Syndactyly (webbing) between 2nd and 3rd toes
- Fair skin
- Puffy eyelids
- Deep set eyes
- Epicanthal folds (fold over inner corner of eye)
- Full cheeks
- Wide nasal bridge
- Full eyebrows
- Minor anomalies of head, ears, hands, feet, and face
People with 22q13 Deletion Syndrome may also share some other physical characteristics that are not visually apparent:
| Hypotonia (poor muscle tone): |
97% |
| Normal to accelerated growth: |
95% |
| Increased tolerance to pain: |
86% |
| Tendency to overheat and lack of perspiration: |
51% |
The following characteristics are experienced by less than half of the deletion population, or the percentage is not known:
- Seizures
- Strabismus (lazy eye)
- Anomalies of the spine
- Vision difficulties that result in extensive use of peripheral vision and poor depth perception
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There is a large range of mental and physical abilities among individuals who have the 22q13 Deletion Syndrome. The developmental delays experienced by the population are often not apparent the first 12 months of life. Many infants with 22q13 Deletion reach their developmental milestones at the appropriate times when they are younger than 1 year old. This is true even of babbling and cooing.
Of individuals studied with 22q13 Deletion Syndrome, we know that 100 percent have global developmental delay and nearly 100 percent have absent or severely delayed speech. There are moderate to profound delays in all areas and significant delays in speech. Physical issues such as immature muscles, hypotonia, and visual perception cause some delays. Other delays seem to have more to do with neurological issues such as nerve control or mental processing time. Still other delays appear to be caused by physical and neurological problems.
As mentioned above, for some, early milestones come at an appropriate time. There is a large range for all developmental milestones. Delays are seen in fine motor and gross motor.
For example:
| Sitting up: |
Average 18 months |
| Crawling: |
Range 10 months to never (some skip the step and creep, others may never develop that skill) |
| Walking: |
Average 27 months, range 16 months to never (some children have started walking as late as 6 years old) |
Individuals who do walk, tend to have an unsteady gate. They do slowly progress in the gross motor development learning to run, jump, throw and catch among other things. Fine motor skills progress slowly also. Some individuals make progress in many fine motor skills including page turning, coloring and even writing.
Many coordination delays are easy to spot, but just as many affecting the population are a challenge to see. While it is easy to see that your child is not yet standing, you might be unaware that their swallowing skills are not developing. Muscles affect more than the gross motor and fine motor movements for which we usually look. They also affect lungs, digestion, swallowing, and more. This is caused by physical abnormalities (hypotonia) and developmental delays.
Speech and language is the developmental area that is the most problematic for individuals with 22q13 Deletion. The receptive vocabulary of this group is constantly and considerably ahead of the expressive vocabulary level. Individuals understand much more of what is being said to them than they are able to say. Receptive vocabulary may be well above developmental delays in other areas also. Augmentative Communication is key. This is proven in many cases where given the opportunity to communicate either with gestures, pictures, or sign language, individuals are communicating far beyond what they would ever be able to verbally say. Some individuals are also able to follow directions, respond when told to do tasks, and help out in many nonverbal ways.
There have been some studies done in the area of IQ on people with 22q13 Deletion. The results have ranged from moderate to severe mental retardation. The Vineland Adaptive Behavior Scales (VABS) and the Battelle Developmental Inventory showed severe to profound mental retardation in 75 percent of children assessed. The other 25 percent were in the mild to moderate mental retardation range, but they were also the youngest members of the group. It appears as children with 22q13 Deletion age and more skills are expected, they fall further behind resulting in a more severe category of mental retardation. There is anecdotal evidence that some older children’s developmental range is from significantly delayed with few or no words and limited understanding to only moderately delayed with conversational vocabulary and some basic math and reading skills.
There are two other areas involving developmental skills that seem to be unique to people with 22q13 Deletion Syndrome. One is that the population seems to have difficulty in skills of daily living that is beyond what is explained by their developmental delays. These skills include eating, dressing, and toilet training. This does not mean these skills are unattainable for all children with the deletion. They do require more time and learning opportunities than one would expect.
The other area that is unique and is still being studied is that of skill loss. This is very different from global skill loss where the individual would be regressing in many areas simultaneously. What is seen with this population is loss of one specific skill while the individual continues to make development growth in other areas. The specific skill loss is seen while there is no evidence of seizures, neurodegeneratic disorders, or inborn errors of metabolism to explain it. Skill loss has been seen with speech including all speech or just specific words and the ability to repeat certain sounds or words. Skill loss has also been seen in other areas such as toilet training.
It is important to acknowledge this characteristic among people with 22q13 Deletion because we often try to discover why the skill was lost. Is the individual no longer trying or being stubborn? Did the therapist not do a proper job of teaching the skill? Did the parent not spend enough time practicing the skill with their child? The answers to all of these questions might be no. Everyone did the right things and still the skill disappeared. It can be a huge frustration, but blame and guilt are not the answer.
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