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Abstract
As the information on the frequency of genetic disorders in Alexandria community
and services available is needed to allow health care planning and to provide a base line
against which possible future changes can be measured, the study of the pattern and the
trend of provided services of the genetics unit of Alexandria University children’s Hospital
were in view. The first eleven years (from 1998-2008) were specified for the study of the
trend of provided services. The last year (2008) was be specified for the study of the
pattern of provided services. The aim of this work was, thus, to evaluate the activities of
the genetics unit of AUCH during the period of the study. The chosen year (2008) was the
eleventh one as regard to the beginning of the work in the unit. It was chosen because it
was the complete year closest to the time of the study. The period of the study had
extended to include the first six month of the year 2009 for complete evaluation of the
follow up of the cases which had attended the clinic towards the end of the year.
from the results of the first eleven years we notice that: The months of April, July,
September had the highest attendance values. There was a gradual increase in the number of
subjected cases almost every year than the previous one e.g: the numbers of subjected
cases were 50, 175, 236 and 284 in the years 1998, 2002, 2006 and 2007 respectively.
There were increased percentages of diagnosed cases from year to year. Their
percentages in 1998, 2001, 2006 and 2007 were 12%, 56%, 75.8% and 56.3%, of all
subjected cases respectively. Chromosomal abnormalities were the predominant diagnosis
and of increasing frequency. In the years: 1999, 2000, 2001, 2005, 2006 and 2007
respectively they represented 16% of diagnosed cases and 8.4% of all subjected cases, 32%
of diagnosed cases and 18% of all subjected cases, 36.2% of diagnosed cases and 20.8% of
all subjected cases, 61.4% of diagnosed cases and 31.5% of all subjected cases, 43 % of
diagnosed cases and 32% of all subjected case, 58.7% of diagnosed cases and 33% of all
subjected cases.
As regards the results of the year 2008: The months of March, May and July had the
highest attendance value. The total number of cases subjected to the genetics unit was 215.
The age of the patient is abnormally distributed. It ranged from one day to 17 years with
median of six month. 54.9% of all subjected cases were females while 45.1% of cases were
males. Patient from rural areas were more than those from the urban city of Alexandria.
Their percentages were 59.1% and 40.9% respectively. Consanguinity were present in
49.8% of subjected cases. Positive family history were present in 13% of cases. There were
diverse reasons for referral to genetic services. They were sorted out into dysmorphism
(88.4%), developmental delay (27.4%) Birth defects (8.4%), sensory deficits 0.9%, and
chronic disease (0.5%). Obviously the main reason was the dysmorphism amounting to
almost 90%. Karyotyping, echocardiography, ultrasound, X-ray, clinical photography, non
specific laboratory tests, other tests, CT brain, specific laboratory tests and MRI brain were
done in 67.4%, 45.6%, 25.1%, 23.3%, 22.8%, 14.9%, 10.2%, 8.8%, 7.4% and 0.5% of all
cases respectively. Total number of diagnosed cases was 168 (78.1%) and number of
undiagnosed cases was 47 (21.9%). Chromosomal disorders were the predominant
representing 39.1% of total cases, 50% of all diagnosed cases. Down’s Syndrome represent
81% of cases with chromosomal abnormalities and 31.6% of all subjected cases.
Translocation was present in 4.4% of cases with Down’s syndrome. In 7% of cases there is
a difference between provisional and final diagnosis.
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As regards the frequency of diagnosed cases during the year 2008: chromosomal
disorders, syndromes were recognized through facial features, syndromes with endocrine
and growth retardation, bone dysplasias, syndromes with significant neurological
abnormalities, syndromes with metabolic defects and syndrome were diagnosed through
eye abnormality represented 50%, 10.1%, 7.7%, 5.4%, 5.4%, 4.8% and 4.2%, respectively.
The rest were minorities. Appropriate referral was done whether the case was diagnosed or
not. 54.9%, 54.4%, 37.7%, 27%, 25%, 14.9%, 14.9%, 11.6%, 9.8%, 8.4%, 3.7%, 2.8%,
2.8% and 2.3% of all subjected cases were referred to early intervention, physiotherapy
clinic, neurology clinic, ophthalmology clinic, ENT clinic, endocrinology clinic,
orthopedic clinic, cardiology clinic, pediatric surgery clinic, speech clinic, neurosurgery
clinic, nutrition clinic, dermatology clinic and nephrology clinic respectively. The rest
were minorities. Counseling was informative in 168 diagnosed cases (78.1%) and
supportive in 47 undiagnosed cases (21.9%).Treatment of cases were offered by the
genetics unit of AUCH for three cases one case of Gaucher disease by enzyme replacement
therapy and two cases of osteogenesis imperfecta by bisphosphonate. In addition to these
three cases which were diagnosed during 2008, previously diagnosed sixteen cases of
Gaucher disease and seven cases of osteogenesis imperfecta were received treatment by the
unit using the same regimen. The study showed that follow up of the patients is a major
problem at genetic clinics. 29.3% of cases never return for follow up. Minority of cases
attend clinic for follow up either 4 (2.7%) or 5 (0.7%) times. Number of f