the effect of cerebrolysin on physical and mental functions of down syndrome

Conditions: Down Syndrome

Summary: down syndrome is a genetic disorder that causes delay in both physical growth and mental development. it is the most frequently reported chromosomal abnormality and the most common genetic syndrome. down syndrome is caused by trisomy of all or part of the genetic material of human chromosome 21. it is now estimated that 94% of individuals with down syndrome have an extra chromosome 21 as a result of meiotic non-disjunction, or the abnormal segregation of chromosomes during maternal gamete formation and of the remaining 5%, less than 1% is due to somatic mosaicism and the rest is due to chromosome 21 translocations. the estimated incidence of down syndrome is between 1 / 1,000 to 1 / 1,100 live births worldwide. in egypt, the incidence of down syndrome has been reported to be 1 / 1000 live births. down syndrome is characterized by intellectual disability, short stature, distinctive facial characters and a number of co-morbidities including cardiac and digestive anomalies, thyroid problems, and childhood leukemia. down syndrome infants will likely experience delays in certain areas and aspects of development. however, they will achieve all of the same milestones as other normal children, just on their own timetable. according to recent studies, the down syndrome behavioral phenotype includes relative strengths in some aspects of visuo-spatial processing and social functioning as well as relative deficits in verbal processing. language has been described as a "major area of deficit" in down syndrome individuals with particular difficulties manifested in expressive language. due to this high incidence of down syndrome in egypt and the associated co-morbidities, governmental care directed to this syndrome and other handicapping conditions has increased tremendously in the past few years to the extent that down syndrome phenotype has become a phobia and many parents and/or physicians referred normal babies for karyotype due to either suspicion of chromosomal anomalies or just for reassurance of their parents. although there has been enormous progress in the management of the physical aspects of down syndrome e.g. repair of heart defects, little advancement has been made to prevent deterioration of cognitive function in these individuals. as a result, the dramatic increase in life expectancy of children with down syndrome in the past few decades has not been paralleled with concurrent treatment for cognitive disabilities. therefore, it has remained the most common cause of cognitive dysfunction in children. the pathogenesis of cognitive deficits and motor disabilities in down syndrome individuals can be attributed to diminished number and size of neuronal density, progressive neuronal degeneration, impairment of neurogenesis, and reduction in dendrite formation as well as spine density which results in disruption of synaptic function and plasticity. therefore, many of these individuals develop increasing problems with learning and memory in later life. cerebrolysin® is a neurotrophic peptidergic mixture isolated from pig brain. it is produced by standardized enzymatic breakdown of lipid-free porcine brain proteins . it acts similar to endogenous neurotrophic factors in the form of promoting neuronal sprouting, stimulating neurogenesis, enhancing neuronal plasticity, and improving learning and memory. several studies demonstrated that cerebrolysin® can be used safely in the management of children with any of the following medical conditions: minimal cerebral dysfunction, resistant forms of nocturnal enuresis, neurosensory hypoacusis, attention deficit hyperkinetic disorder, autism and asperger syndrome. the overall aim of the study is to assess the effect of cerebrolysin® on neurocognitive development of infants with down syndrome.


Eligibility criteria:
inclusion criteria: * infants were confirmed to have down syndrome of non disjunction genotype. * age was around 6 month, at time of recruitment. * legal guardians accepted to participate in the study and sign the informed consent. exclusion criteria: * patients having uncontrolled hypothyroidism * patients with brain malformations other than the expected in infant with down syndrome. * patients with hearing and / or vision impairments. * severe congenital heart disease * patients having contraindications for the use of cerebrolysin