Characteristics of CLS
These are the characteristics associated with Coffin-Lowry syndrome. An
individual with CLS may have some or all of these characteristics, or different
combinations. The most telling diagnostic clues are tapered fingers,
downward slanting eyes, and delayed bone development. Distal tufting of the
fingertip bones is also highly diagnostic, but this is only visible on X-ray. It is important to
remember that each individual is unique and that their own genetic makeup will
also be a factor.
Craniofacial
CLS is associated with a distinctive set of facial
characteristics, the result of which people with CLS tend to resemble each
other, in the same way that people with Down's syndrome tend to have the same
facial characteristics. Parents who see other children with CLS for the first
time are often struck with how much their own children resemble other children
with CLS.
 | 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) |
| thick septum (a broad nose with a thicker than normal area between the
nostrils) |
| everted lips (large mouth with full, turned-out lips) |
| prominent, low-set ears |
| ptosis (fullness of the upper eyelids) |
| supraorbital ridges (prominent eyebrow ridges) |
| thickened skull with large frontal sinuses |
| 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 |
| "stimulus-induced
drop episodes (SIDEs)", unexpected tactile or auditory stimuli or
excitement triggers a brief collapse but no loss of consciousness. Treatment
includes medications such as valporate, clonazepam, selective serotonin uptake
inhibitors or limotrigine.
 | affects approximately 20% of patients Stephenson et all
(2005) recorded a prevalence of 20% (34/170) from the CLS Foundation
database. Stephenson et all (2005) have also emphazised that the nature of
the movement disorder may change with age and that a single individual may
have more than one type of neurologic sign, ranging from caraplexy that
varies with stimulus, hyperekplexia, a prolonged tonic reaction, and true
epileptic seizures. |
| Epileptic seizures affect about 5% of individuals
[Stephenson et all 2005] |
| unexpected tactile or auditory stimuli/excitement trigger
a 60- to 80-millisecond electromyographic (EMG)
silence in the lower limbs that results in a brief collapse though no
loss of consciousness [Crow et all 1998, Nakamura et all 1998]. |
| 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 are generally happy and easygoing.
Their temperament remains friendly
throughout life and, despite their limited verbal abilities, their
communication skills are good. |
|
|
Female carriers may have a higher
rate of psychiatric illness than that found in the general population. Six
(8.8%) of 68 women (22 females with CLS, 38 heterozygotes, and eight
'affected' sisters) have had psychiatric diagnoses, including schizophrenia,
bipolar disease, and 'psychosis' [reviewed in Hunter 2002]. |
| 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
|
| behavior issues - Risperidone may be of benefit to
individuals who display destructive or self-injurious behavior problems. |
|
*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
The spine should
be regularly monitored for scoliosis during
childhood, and for spinal stenosis in late
teen through 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) [Hunter 2002] |
| 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.)
|
