Group outpatient care supporting congenital diseases

"What should we do if our baby is found to have a congenital disease like Down syndrome...?"

Along with the joy of pregnancy, expectant mothers may have such anxieties.

As Non-Invasive Prenatal Testing (NIPT) becomes more widespread nationwide, medical initiatives to support families with concerns about congenital diseases in children are expected.

This time, we introduce "group outpatient care" that supports babies born with congenital diseases and their families.

What are Congenital Diseases?

First, what exactly are congenital diseases?

Congenital diseases are conditions that a baby has from birth.

These diseases can be categorized as follows:

• Chromosomal changes (about 25% of all congenital diseases): Down syndrome, Trisomy 18, Trisomy 13
• Genetic changes (about 20% of all congenital diseases)
• Various factors influencing (about half of all cases): congenital heart diseases
• Teratogenic and environmental factors (about 5% of all cases): drugs, tobacco, alcohol, etc.

Although these classifications of congenital diseases exist, only some of these diseases are identifiable at birth.

Some diseases may only become apparent as the baby grows.

Of course, even if a baby has a disease or disability, it is important to consider it as just one of the child's characteristics.

Congenital Diseases Detectable by Non-Invasive Prenatal Testing (NIPT)

Among congenital diseases in babies, Trisomy 21 (Down syndrome), Trisomy 18, and Trisomy 13 can be assessed for positive, negative, or indeterminate probabilities through Non-Invasive Prenatal Testing (NIPT), which is one of the prenatal genetic tests.

This test can be performed through a blood draw between the 10th and 18th weeks of pregnancy, and it is characterized by being non-invasive for the mother.

Organizations for Consultation After NIPT

It is recommended to receive genetic counseling both before and after undergoing NIPT.

This is because the results of NIPT may cause parents to struggle with the decision to continue the pregnancy, and they may need opportunities to consider psychological support and ways to address their concerns with the help of professionals.

In addition to genetic counseling, there are organizations like the "NPO Supporting the Future of Parents and Children" that support families in making happy choices after undergoing NIPT.

This NPO operates services like "Yurikago," which provides free consultations on NIPT testing, results, and the baby's diseases.

• NPO Supporting the Future of Parents and Children
• Yurikago (Online Peer Support Service)

What is Group Outpatient Care?

Before undergoing NIPT, it is essential to know that even if your baby is diagnosed with a disability like Down syndrome, there are medical and welfare support systems in place for both parents and the newborn.

Among these, group outpatient care conducted mainly by hospitals provides significant support for infants with Down syndrome, which is a common congenital disorder, and their families.

In group outpatient care, comprehensive developmental support for children and psychological and social support for children and their families are provided to the group, addressing needs that cannot be fully met through individual outpatient visits alone, especially after receiving a Down syndrome diagnosis.

What Happens in Group Outpatient Care

In group outpatient care, early intervention for Down syndrome is provided for children aged 0 to 3 years and their families.

The courses typically focus on a period of six months to one year during the early infancy stage, and the content of the courses varies depending on the hospital offering them.

Most group outpatient programs require a prior visit to the genetics outpatient clinic.

Additionally, group outpatient care is characterized by providing not only information to children and families but also opportunities for family interaction.

Many programs are structured as six-month to one-year courses held once a month. They involve a team of professionals, including doctors, certified nurses, certified genetic counselors, clinical psychologists, physical therapists, occupational therapists, speech therapists, nutritionists, social workers, childcare workers, and dental hygienists, who offer programs to promote the development of babies with Down syndrome.The program includes:

• Health management (ophthalmology, otolaryngology, orthopedics, cardiology)
• Motor development and rehabilitation
• Medical and welfare information (services and facilities they may want to use)
• Development of eating functions and dental health, breastfeeding, and feeding advice
• Play and communication
• Free talk on parenting and learning sessions for parents
• Information on local early intervention and educational institutions
• Genetic counseling

These components are incorporated into the program and provided to children with Down syndrome and their families.

Hospitals Offering Group Outpatient Care

In Japan, the following hospitals have established group outpatient care for children with Down syndrome and their families.

• Saitama Children's Medical Center Genetics Department Down Syndrome Comprehensive Support Outpatient (DK Outpatient)
• Nagano Children's Hospital Down Syndrome Group Outpatient
• Shiga Prefectural Medical Center for Children with Disabilities Therapy Department Waiwai Class (Group Therapy for Children with Down Syndrome)

Clinics with Group Therapy

• Mikuri Kids Clinic Down Syndrome Language Group / Down Syndrome Music Therapy Group

In many hospitals and facilities, in addition to healthcare professionals, there are many places operated by volunteers, and it must be said that the number of such facilities nationwide is quite limited.

Expectations for Group Outpatient Care

One of the expected benefits of participating in group outpatient care for children with Down syndrome and their families is that interaction among children with Down syndrome and their families can help reduce feelings of loneliness and anxiety.

Furthermore, through the group outpatient program, understanding of Down syndrome and attitudes toward parenting are promoted, helping families move through feelings of affirmation and denial regarding their child's disability, thereby aiding in the understanding and acceptance of the disability.

In this sense, participating in group outpatient care for children with Down syndrome and their families is highly significant.

Support for children with other congenital diseases and their families is also necessary, similar to group outpatient care for Down syndrome.

However, the number of such facilities is limited nationwide. For example, there is the group outpatient care (for congenital anomaly syndromes) at Saitama Children's Medical Center.

• Saitama Children's Medical Center Group Outpatient Care (Congenital Anomaly Syndromes)

Conclusion

Because NIPT can determine the probability of congenital diseases, it is important to know about services, medical care, childcare, and early intervention support, including group outpatient care for children with congenital diseases like Down syndrome and their families, before undergoing NIPT.

Knowing about these resources before taking the NIPT test can help with obtaining appropriate information, making informed decisions after receiving the NIPT results, and alleviating anxiety.

Understanding the diseases like Down syndrome, the support systems such as group outpatient care, and the available assistance is crucial before undergoing NIPT.

It is essential to create a system where group outpatient care becomes more widespread and its existence is known to pregnant women undergoing NIPT.