 | hypertelorism (a greater than normal distance between the pupils of the
eyes) |
| downward slanting narrow palpebral fissures (the opening between the
eyelids is narrow and slants down from inner corner to outer corner, also
referred to as an anti-Mongoloid slant) |
| frontal bossing (prominent forehead) |
| thick septum (a broad nose with a thicker than normal area between the
nostrils) |
| everted lips (large mouth with full, turned-out lips) |
| large, low-set ears |
| ptosis (fullness of the upper eyelids) |
| supraorbital ridges (prominent eyebrow ridges) |
| sitting, crawling and walking are delayed |
| loss of strength and muscle mass |
|
ataxic gait |
| both decreased and increased deep tendon reflexes |
| progressive spasticity |
| progressive paraplegia with loss of ability to walk, due to
calcification of the ligamenta flava and congenital stenosis (narrowing) of
the spinal canal |
| sensory
integration issues and sensory defensiveness, most noticeable in early childhood |
| "drop episodes", similar to hyperexplexia or
cataplexy
 | affects 10-20% of patients |
| unexpected tactile or auditory stimuli/excitement trigger EMG
silence in the lower limbs |
| results in a brief collapse, but no loss of consciousness |
| frequency of attacks may cause the need for a wheelchair to prevent
injury |
| individuals with persistent drop episodes may be at
higher risk for spinal cord compression injuries. |
|
| severe
mental retardation which may inhibit detailed neurological
assessment
| The cognitive deficit in CLS males is significant, with IQ scores
ranging from very low to moderate (between 15 and 60), but clustering
in the severely deficient range. Partington
et al. (1988) found
no evidence for intellectual deterioration with age, although it had been
reported previously (Coffin et al., 1966, Procopis
et
al., 1972). |
|
| abnormal brain MRI findings, aka "white matter" disease |
| pleasant personality
| Most people with CLS have cheerful, friendly dispositions most of the time.
Their temperament remains friendly
throughout life and, despite their limited verbal abilities, their
communication skills are good. |
|
| Speech delays
| development is always affected but
to variable degrees. |
|
| There are certain behaviors* that may occur that overlap with some
characteristics of autism:
| perseverance - repeating the same phrases over and over |
| echolalia - repeating the last word or words that are spoken to them |
| language delays |
| general anxiety |
| dislike of being touched |
| severe temper tantrums, especially when required to change from a favorite
activity to some other activity. |
| emotional outbursts |
| over- or undersensitivity to pain, no fear of danger
|
| aggressive behavior (rare) |
| self-injurious behavior (rare) |
|
*It is important to note that some behaviors are caused by an underlying
chronic condition, such as ear infections or stomach problems, that will cause a
person with CLS to "act out" or misbehave because they do not have the necessary
verbal skills with which to express their discomfort. Care should be taken to
investigate and eliminate underlying health issues when dealing with behavior
problems.
Behavior problems may also signal the onset of a more severe
psychiatric problem. "Persons with developmental disabilities are subject to the
full range of psychiatric illnesses seen in the general population. All types of
mental disorders can be observed among people with
mental retardation or other
developmental disabilities, with an incidence estimated to be at least two to
three times that of the general population. In many cases, the initial
psychiatric presentation will consist of a change in behavior or function. As
many as 40% of people with mental retardation may experience a period of
disturbed behavior and function at some time in their lives, which may signal
the onset of a psychiatric disorder."
Psychiatric
co-morbidity, UC San Diego Office of Continuing Medical Education
Drug therapy cannot change the underlying disorder. However, the selective
seratonin-reuptake inhibitor family of drugs (SSRIs), such as fluoxetine
(PROZAC), paroxetine (PAXIL), and fluvoxamine (LUVOX), are are often effective
in reducing ritualistic behaviors of autistic children, and there is anecdotal
evidence among the parents in the CLSF support group that they also help
children with CLS. Antipsychotic drugs, such as risperidone (RISPERDAL), may be
used to reduce self-injurious behavior, although the risk of side effects (such
as movement disorders) must be considered.
Skeletal
Skeletal abnormalities usually continue to
deteriorate progressively, often requiring surgery in adulthood.
| narrow spaces between the vertebrae (narrow intervertebral spaces) |
|
congenital spinal stenosis |
| delayed bone development (for example, the fontenelle, or "soft
spot" on the baby's head will take longer than normal to close -
often as late as two years of age) |
|
brittle
bones |
| pigeon chest or tunnel chest (pectus carinatum or
pectus excavatum)
- pectus deformity affects 80% of individuals. |
| excessive backward and/or side-to-side curvature of the spine (kyphosis
and/or scoliosis) (80% of individuals are affected).
| at least 47% of affected males have progressive kyphoscoliosis (32%
of females) |
| respiratory compromise can happen due to this. |
|
| short stature - 5th percentile for height (Affects 95% of individuals -
Average height in reported adult males is approximately 143 cm - the
shortening of stature is often exacerbated by a severe kyphoscoliosis. Females
are less severely affected with approximately 50% lying above the 10th
percentile.)
|
