Down Syndrome, Autism & Cerebral Palsy

Cerebral palsy is diagnosed by checking family history and physical examination, early diagnosis and intervention works wonders in case of managing cerebral palsy as it is a developmental disability. There are many preventive interventions that have been investigated. The method Electronic foetal monitoring helps to prevent cerebral palsy.

It’s a congenital disorder of movement, muscle tone or posture, cerebral palsy affects body movement and muscle coordination, reflex, balance and it is caused due to brain injury or brain malformation that occurs while the brain is at its developing stage i.e., before, during, or after birth.

Autism management can be done by health screening in a systematic way and cognitive development by hearing aids, Speech therapy, special education, augmentive and alternative communication methods and services should be carried out by behaviour analyst, speech pathologist and licensed psychologist.

Since there is no medical test like a blood test, etc. to diagnose the disorders. Doctors look at the child's behaviour and development to make a diagnosis.

Autism has a strong genetic basis it is explained more by mutation, Exposure to air pollution during pregnancy, especially heavy metals and particulates, may increase the risk of autism. Maternal nutrition inflammation during preconception and pregnancy influences foetal neurodevelopment.

Autism is caused due to both the combination of genetics and environment, Autism is highly variable neurodevelopmental disorder whose symptoms first appears during infancy, this is distinguished by a traid of symptoms like trouble with social interaction, impaired communication, restricted interests, repetitive behaviour.

Down syndrome can be prevented by consulting a genetic counsellor before becoming pregnant and discussing about the risk factor but ultimately the condition cannot be prevented.

Down syndrome also depends upon the medical problem faced and complications, earlier children born with Down syndrome had a life span of 9 years but now due to the advance medical technologies and quality of life have increased their life span up to 55 years and many lived even longer.

A genetic disorder where an abnormal cell division takes place and results in full or partial copy of chromosome 21 also known as trisomy 21 which causes an underdeveloped mental and physical features.

The study of heritable phenotypic changes that involve modification in the DNA sequence is called epigenetics such as DNA methylation and histone modification.

Down syndrome is caused by having three copies of genes on chromosome 21 also known as mosaic Down syndrome which can also give rise to Robertsonian translocation, isochromosome or ring chromosome, these contain an additional genomic material from chromosome 21.

Females with Down syndrome are fertile and do ovulate but also they get earlier menopause, about 35-50% of Down syndrome mothers gave birth to children have trisomy21 and other disabilities. Whereas males with Down syndrome have poor fertility as the suffer problem with sperm production and development and generally do not father children.

20-50% of people with Down syndrome suffer with thyroid gland problem; congenital hypothyroidism is the most common form of low thyroid within the individual resulting in Type 1 diabetes mellitus, autoimmune hypothyroidism and Grave’s disease.

People with Down syndrome have a risk of developing cancer from germ cells which can be blood or non-blood related. The risk of testicular cancer and blood cancer is more which also includes acute lymphoblastic leukaemia (ALL) and acute megakaryoblastic leukaemia (AMKL).

Congenital heart disease among Down syndrome is around 40% and above 80% of people have ventricular septal defect, atrioventricular septal disease as well as mitral valve problem.

It is a neurological disorder, in which nerve cell activity in the brain is disturbed, causing seizures. Epilepsy may occur as a result of a genetic disorder or an acquired by brain injury.

Person with Down syndrome have physical as well as intellectual disabilities the also have poor immune system and their physical and mental development  is slow as compared to the normal people, They have a huge risk of other health problems such as epilepsy, thyroid diseases, congenital heart disease, leukaemia, tumour and blood cancer.