Most of the ailments are genetic, however, illiteracy and so-called cultural perceptions have left muddy effects taking actual issues quite far from a properly scientific understanding of “the cause and effect factor”.

By Dr Abdullah Arijo

Until 1997, till the human genome project was announced, about 2000 diseases got their genetic basis previously given suspicious definition. Microcephaly has been treated as an unsolved myth associated with shrines and so-called Peers. The fact is otherwise. Those who are born with the abnormally small skull are a victim of a teratological effect that appears during the embryonic development phase. It is a genetic disorder. n Pakistan, such syndrome is termed as the “rat people” and are credited with god-like powers. Their begging proves extremely lucrative for the gangs so much so that some people allege that normal babies are being deliberately deformed by keeping their skulls in fixed frames to look like them.

It is hard to deny that there are professional people who rear innocent children from early childhood and clamp the children’s heads in infancy.

Born with an abnormally small skull is a teratological (abnormal development) condition attributed to genetic mutations and in some cases hormonal disturbances. Research studies reveal that microcephaly is an autosomal recessive disorder of neurogenic mitosis that causes a reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD-repeat protein 62 are associated with autosomal recessive primary microcephaly with cortical malformations. This study was initiated to screen WDR62 mutations in four consanguineous Pakistani families with autosomal recessive primary microcephaly as reported by Kousar et al, (2011).

Although, this condition may develop in any generation due to genetic mutations caused by diversified mutagens i-e. ultraviolet, chemical mutagens and environmental mutagens. However, consanguinity (marriages within close blood relatives) are a dominant reason. Cousin marriages persist as a popular practice in Pakistan as well as among many Muslims worldwide, hence it is more likely for offspring of cousins to have this autosomal disorder which is on the serious increase with the alarming situation.

In Pakistan, baring Urdu speaking families, who are not so bound to have cousin marriages, relatively, if no ideally, trend prevails quite common in Punjabi, Balochi, Pashto and Sindhi speaking families.

Microcephaly may be caused by genetic abnormalities or by drugsalcohol, certain viruses, and toxins that are exposed to the fetus during pregnancy and damage the developing brain tissue and is not always inherited. In some cases, microcephaly may be caused by inheriting an abnormal gene. Microcephaly is an autosomal recessive gene disorder. Only genetic mutations may not be held responsible. Babies may also be born with microcephaly if, during pregnancy, their mother abused drugs or alcohol, became infected with a cytomegalovirus, rubella (German measles), or varicella (chickenpox) virus, was exposed to certain toxic chemicals or had untreated phenylketonuria (PKU).

 Symptoms of microcephaly vary from impaired cognitive development, delayed motor functions and speech, facial distortions, dwarfism or short stature, hyperactivity, seizures,

difficulties with coordination and balance, to other brain or neurological abnormalities.

Diagnosis of this ailment is not a big deal. Microcephaly may be typically detected during ultrasounds in the late second and early third trimester of pregnancy, these findings might be detected as early as 18-20 weeks gestation.

Prevention of this abnormality is possible too. A woman who is conceiving can take steps to try to prevent acquired microcephaly.  A healthy diet and take prenatal vitamins, zero alcohol and high potency medicine, staying away from chemicals, avoid changing cat litter box and avoid using insect repellants for these may be carcinogenic and cause a genetic mutation that may ultimately lead to microcephaly

The Risk Factors in this genetic disorder vary. Some babies have microcephaly because of changes in their genes. Other causes of microcephaly, including severe microcephaly, can include exposures during pregnancy to infections such as rubellatoxoplasmosis, or cytomegalovirus.  Some babies with microcephaly have been reported among mothers who were infected with the Zika virus while pregnant.

Come what may, but this is a genetic abnormality and has nothing to do with mal tailored stories. Microcephaly is a lifelong condition. There is no known cure or standard treatment for microcephaly. Because microcephaly can range from mild to severe, treatment options can range as well. Babies with mild microcephaly often don’t experience any other problems besides small head size. These babies will need routine check-ups to monitor their growth and development.

The writer is Chairman, Department of Parasitology, Sindh Agriculture University, Tandojam