The Importance of the Restart of SMA Screening in Hungary

The spinal muscular atrophy (SMA) is a rare genetic disorder that can severely impact the lives of children. The disease manifests in some infants, thus deserving attention from families and healthcare professionals. Among genetic disorders, SMA requires special attention as early detection and treatment can be crucial for the quality of life of children. Emphasizing the importance of prevention and screening is essential, as the disease can have serious consequences if not detected in time.

Screening plays a significant role in ensuring that families are informed about the disease in a timely manner, allowing for early intervention. With this approach, both parents and doctors can prepare for the necessary actions. The aim of screening programs is to give infants the best chances in life and to avoid the severe consequences of the disease.

SMA screening receives particular attention in our country, and it is important for parents to be aware of their options and what to do regarding screening.

The Importance of Newborn Screening Tests

Newborn screening tests are essential for the early detection of congenital diseases that may not show symptoms at the time of a child’s birth. These diseases can later lead to severe, life-threatening conditions that may result in permanent damage. Through screening, specialists can detect problems early, allowing for immediate initiation of appropriate treatment.

The diseases discovered through screening encompass a wide spectrum, with over 25 congenital metabolic disorders, including the most well-known phenylketonuria (PKU). Timely identification of these conditions enables us to provide the best treatment options for infants, thereby improving their quality of life. Early diagnosis and appropriate therapy can prevent severe complications and permanent damage.

Continuing screening programs is particularly important as they provide parents with the opportunity to proactively manage their child’s health. In the case of SMA, the best outcomes can be achieved when treatment is started as early as possible, thus avoiding the severe consequences of the disease.

Restarting SMA Screening

SMA, as a genetic disorder, does not manifest immediately after birth; however, the disease can already damage motor neurons during the asymptomatic period. Therefore, early screening is extremely important as it allows for the earliest possible detection of the disease. Restarting SMA screening is particularly crucial, as early diagnosis and treatment are essential for preserving children’s mobility.

During screening, families have the opportunity to proactively monitor their child’s health status. Timely intervention is key, as delays can result in children being unable to regain their mobility, leading to potential confinement to bed and difficulties in swallowing and breathing.

Parents also have the opportunity to participate in a research pilot program aimed at early detection of the disease and expanding treatment options. The significance of SMA screening lies in the fact that through the program, most parents take advantage of the opportunity, reducing the risk of later discovery of the disease.

What Parents Should Do Regarding Screening

It is important for parents to be aware of the screening options, especially if their child was born in January or February. In such cases, parents need to fill out a parental consent and data protection statement, which must be submitted to their midwife or family pediatrician for subsequent SMA screening requests.

For children born from March onwards, screening can also be requested before birth if parents have informed the healthcare personnel of their intentions in advance. This process allows every newborn to undergo screening, maximizing the chances of early diagnosis.

It is important to emphasize that screening is conducted with a single blood sample, which is already taken during the mandatory newborn screening tests. Therefore, screening does not pose an additional burden on infants, and it simplifies the process for parents. The active involvement of nursing and medical personnel plays a key role in ensuring that parents are informed about the importance of screening and their options.

Bethesda Children’s Hospital provides the necessary information and support regarding screening, enabling every parent to give their child the best chance as they embark on the path to adulthood.