Breastfeeding a Baby with Down Syndrome

Author : dr. Agusnawati, M.Epid, IBCLC, CIMI

 

Down syndrome (DS) or Trisomy 21 is a genetic disorder due to an error in cell division where instead of two copies, there are three copies on chromosome 21. Hence the baby has 47 to 46 chromosomes1–8.  This disorder is the most common chromosomal abnormality in living babies5.  The incidence rate of DS is one birth in 1,000 births worldwide (WHO 2016)6. In The United Kingdom, there are 700 births with DS each year9; in Australia, 270 births per year10; in United Stated, 6000 births per year11. In Indonesia alone, the incidence rate of DS is 210 births per year from Riskesdas 2018 data6.

Babies with DS have several physical characteristics, namely hypotonia (muscle weakness), flat face shape, upward eye shape, abnormal ear shape, large tongue, abnormalities in the joints, a long distance between the thumb and forefinger of the foot, and there is only one line on the palm (simian crease)1,5,6,11. Babies with DS are also prone to infections, eating and speech disorders, gastrointestinal anomalies, hypothyroidism and heart abnormalities1,6,12.  Physical characteristics play a role in the breastfeeding process, namely hypotonia, large tongue, and heart abnormalities. Often, the baby is separated from the mother because of hospitalization due to health problems that often occur in DS babies2–4,6,13–35.  Babies with DS have a shorter duration of breastfeeding compared to normal infants10. This is because hypotonia affecting the baby’s ability to suck and will, later on, impact the decrease in the production of the mother’s breastmilk8–10,36,37. Several alternatives are given to babies with DS, such as a bottle or a nasogastric tube (NGT), to counter the breastfeeding difficulties36–38.

Many studies say that breast milk protects babies from the risk of leukemia; this turns out to be a very significant effect on DS babies39,40. The process of sucking into the breast can train the muscles of the DS babies so that later they will be stronger to help in the process of eating and speech9,27,40–43. The bonding effect created while breastfeeding can also reduce the level of stress of the mothers in accepting that having a baby with special needs43. Some studies show several factors that can increase the success rate of breastfeeding journey for DS babies: maternal readiness, previous breastfeeding history, family support, and health care personal support9,21,34,36,37,43. Breastfeeding directly into the breast has many benefits for DS babies, although it needs more support and may not be a smooth journey.  Breastfeeding has many health benefits for normal babies and DS babies, such as risk reduction of recurrent infections, obesity, and cognitive developmental delay. More important to consider that DS babies are more vulnerable to these health problems, so the benefits are highly relevant12,22.

Mothers with DS babies should be assisted in breastfeeding because it is vulnerable for them to become undernutrition or malnutrition.  The breastfeeding process will be helped by using supplementation tools at the breast to meet the baby’s nutrition.  Based on research by Praborini et al. found that undernourished babies can be breastfed with the help of supplementation tools on the breast.  All of the subjects (100%) in this study can achieve a good nutrition status after the holistic therapy, namely breastfeeding with supplementation tools at the breast, frenotomy to infants, and some subjects (20%) had early complementary food at the age of 4 months and then lactogog and acupuncture therapy for the mothers.  In the end, the use of supplementation aids was stopped, then 100% of subjects could grow normally and achieve a good nutritional status by breastfeeding alone or breastfeeding and complementary food44.  With the help of this supplementation tool, the baby will continue to suckle into the breast to achieve sufficient weight gain, and the mother’s milk production can be maintained properly.  This paper will be presented a case of a mother who successfully breastfed her DS baby with the help of supplementation tools.

BANNER 728 x 90

 

Case Presentation

Mrs. D (40 years old) first came to the pediatrician clinic to meet a pediatrician certified with the International Board of Certified Lactation Consultant (IBCLC) with her baby, By. A, when she was one month and 16 days old. By. A is the third child of Mrs. D, with successful breastfeeding for two years periods with her two previous children. By. A born spontaneously in a term pregnancy with 2850 grams (gr) birth weight. No problems occur during pregnancy and childbirth. Early initiation of breastfeeding and rooming-in was done after the baby was born. The mother had tried to breastfeed the baby since birth, but it was difficult because the baby suckled intermittently and fell asleep more in the breast while breastfeeding. Hence, the duration of breastfeeding became long. The mother feels the baby suckled weakly and often falls off the breast. Because she was concerned about the baby’s milk intake, the baby was given a cup with the mother’s express breastmilk (EBM). However, it was also challenging, and the baby only could drink a little. The mother decided to go to the lactation clinic in the hospital where both siblings used to have frenotomy. The mother wanted to check if the baby had a tongue tie and lip tie like the siblings and whether a frenotomy procedure was needed. Then the mother was referred to an IBCLC pediatrician because the baby was suspected of Down syndrome from birth and was currently awaiting the results of chromosome examinations.

Four days later, the mother came to the pediatrician clinic in Puri Cinere Hospital. Then the frenotomy procedure was performed on the baby. The mother was taught the use of supplementation tools at the breast, namely the Supplemental Nursing System (SNS), which will later be filled with EBM or pasteurized donor breast milk (DBM). At the age of 1 month and 16 days, the baby only weighed 2210 gr, which fell 640 gr from her birth weight, so the baby failed to thrive.  During breastfeeding observation using SNS after frenotomy, there was still difficulty in breastfeeding; the baby often fell off from the breast and often fell asleep in the breast. The baby was not too eager to breastfeed and only drank 30 ml from the SNS.

Follow up 12 days later (age one month 28 days), the baby’s weight was 2320 gr which gained 110 gr (9.2 gr/days), with an SNS intake of 200 ml/day. The mother felt that the baby was more active even though sometimes still lazy when breastfeeding. During breastfeeding observation using the SNS, the baby only took 40 ml. For additional treatment for the health of this dyad, both of them were given vitamin D.  The subsequent follow-up was at two months ten days old, the baby’s weight was 2275 gr, fell 45 gr from the last follow-up, and has not returned to her birth weight. The results of chromosome examinations were positive with Down syndrome or trisomy 21.  The baby was consulted to a cardiac subspecialty pediatrician to see any heart abnormalities.  Breastfeeding remains with SNS content of EBM or DBM.  The subsequent follow-up was at two months and 19 days old. The baby gained only slightly (2280 gr). The cardiac echocardiography results were a small Patent Ductus Arteriosus (PDA) with no concern. SNS could enter 250-300 ml/day. Because the baby’s weight did not gain well, it was recommended to the parents the use an NGT on the baby, but the baby refused and pulled off the NGT. Finally, it was decided to keep breastfeeding with SNS, and the baby had oral motor exercise therapy with physiotherapy.

The subsequent follow-up was three months and two days old; the baby’s weight was 2625 gr, gained 345 gr in 14 days (average of 24.6gr/day). Since the physiotherapy treatment, the mother felt that the breastfeeding quality has improved; SNS can be used at 270-375 ml/day.  The baby was given piracetam therapy of 2×30 mg and continued physiotherapy.  The mother was asked to add another two months of her maternity leave.  The subsequent follow-up was three months 22 days old; the baby’s weight was 2780 gr, gained 155 gr but has not returned to her birth weight. SNS used 400 ml/day with the mother felt the baby suckled was stronger and from the physical examination neck and head control also stronger. The baby continued the physiotherapy and piracetam treatment, and the mother was given lactogog 1×1 tablets. The mother’s office approved adding two months to the mother’s maternity leave. The subsequent follow-up was four months and six days old; the baby’s weight was 2965 gr, it was already over her birth weight, and she gained 185 gr from the last follow-up with SNS used 400 ml/day. The baby was consulted with a lactation clinic to prepare the early complementary food at four months.  The therapy treatment for both mother and baby remain the same at this point.  The subsequent follow-up was four months and 20 days old; the baby’s weight was 3315 gr, gained 350 gr from the last control. The baby is already eating solids, and there was no problem regarding the complementary food, which was indicated by the baby’s desire to eat.  The Re-echocardiography result showed there were no abnormalities in the baby’s heart. The baby was given iron supplements and SNS wherever possible because the baby had already eaten. The mother would be back to work in 20 days, as the baby can already drink EBM with a cup.

The subsequent follow-up was five months and 18 days old; the baby’s weight was 4055 gr, gained 740 gr from the last control. Since the baby started eating solids, the baby’s weight increased significantly. The SNS was only used once a day because the mother was already working. The baby ate solids and drank EBM while the mother worked, and physiotherapy was still being done.  The subsequent follow-up was six months 25 days old, the baby’s weight was 5600 gr, gained 1545 gr in 1 month and seven days, the baby now in the slow weight gain criteria baby.  The use of the SNS then stopped.  The subsequent follow-up was eight months 17 days old, the baby’s weight was 7540 gr, gained 1940 gr in 2 months. The growth by weight chart has entered the standard (good nutrition) curve for baby girls. The mother was happy because the baby loved to eat and now getting better at breastfeeding. Physiotherapy was still suggested to be done every once a month for maintenance.

 

Graph 1 Baby Weight Development

 

Age Weight in grams Weight at follow-up Growth Therapy Information
Born 2850 Breastfeeding only She was born spontaneously, a term.
One month 16 days 2210 Fall 640 gr from birth weight <-3SD (failed to thrive) –        Frenotomy

–        Breastfeeding with SNS filled with EBM/DBM 6×30 ml/day

 

Awaiting the results of a chromosome examination with suspected Down syndrome
One month 28 days 2320 –        Gained 110 gr in 12 days

–        Average gained 9.2 gr/day

–        Still Fall 530 gr from birth weight

<-3SD (malnutrition) –        SNS continued

–        Mother and baby have given vit D

Two months ten days 2275 –        Fell 45 gr in 12 days

–        Fell 575 gr from birth weight

<-3SD (malnutrition) –        SNS continued

–        Consul to a cardiac subspecialist pediatrician for echocardiography

–        Results of chromosomal examination of babies with Down syndrome or Trisomy 21
Two months 19 days 2280 –        Gained only 5 gr in 9 days

–        Fell 570 gr from birth weight

<-3SD (malnutrition) –        SNS used 250-300 ml / day

–        SNS continued

–        Oral Motor exercise by physiotherapy

 

–        Cardiac echocardiography results: Small PDA with no concern

–        The use of NGT was recommended, but the baby refused.

Three months two days 2625 –        Gained 345 gr for 14 days

–        Average gained 24.6 gr/day

–        Fell 225 gr from birth weight

<-3SD (malnutrition) –        SNS continued

–        Physiotherapy continued

–        Baby has been given piracetam 2×30 mg

–        Mother adds two months off maternity leave

–        The baby suckles were felt to be getting stronger and smarter in breastfeeding
Three months 22 days 2780 –        Gained 155 gr in 20 days

–        Average gained 7.75 gr/day

–        Down 70 gr from BL

<-3SD (malnutrition) –        SNS and physiotherapy continued

–        SNS 350-400 ml/day

–        Mother has been given laktogog 1×1 tablet

–        The adding of maternity leave had approved

–        The baby’s head and neck control were stronger.

Four months six days 2965 –        Gained 185 gr in 14 days

–        Gained an average of 13.21 gr/day

–        It had already passed the birth weight by 115 gr

<-3SD (malnutrition) –        SNS and physiotherapy continued

–        SNS 400 ml/day

–        Early Complementary Food

The baby begins to complementary food.
Four months 20 days 3315 –        Gained 350 gr in 14 days

–        Average gained of 25 gr/day

–        Gained 465 gr from birth weight

<-3SD (malnutrition) –        No problem with eating solids

–        The baby loved eating solids

–        SNS continued as much as possible

–         Re-echocardiography with normal results

–        The mother will be back in the office in 20 days.

Five months 18 days 4055 –        Gained 740 gr in 18 days

–        Gained an average of 41.11 gr/day

–        Gained 1205 gr from birth weight

<-3SD (malnutrition) –        SNS only once a day since mom worked

–        SNS at a convenience

–        Physiotherapy continued

–        The mother was already at work.

–        EBM with a cup and eating solids when mother work

Six months 25 days 5600 –        Gained 1545 gr in 1 month seven days

Gained an average of 41.75 gr/day

–        Gained 2750 gr from birth weight

<-2SD (undernutrition or slow weight gain) –        Baby eating solid and breastfeeding

–        SNS Stopped

–        Baby loved to eat

–        The mother was happy because the baby was getting smarter at breastfeeding

Eight months 17 days 7540 –        Gained 1940 gr in 54 days

–        Gained an average of 35.92 gr/day

–        Gained 4690 gr from birth weight

-2SD–1SD (good nutrition) –        Baby eats solids and

–        Breastfeeding directly when the mother is at home

–         Physiotherapy once a month

–       The mother was happy that the baby’s weight was now normal

–       Babies eat and breastfeed even better

 

 

 

Discussion

Based on the above case, the baby’s DS characteristics are hypotonia, flat face shape, eye shape upwards, abnormal ear shape, large tongue, long distance between the thumb and index toe 1,5,6,11. In this case, the DS’s diagnosis was confirmed by chromosomes examination with the results of Trisomy 21. Since birth, the baby has difficulty breastfeeding, so the mother looked for other alternatives to giving breast milk to the baby. With a successful previous history of breastfeeding, the mother was more confident that she could breastfeed her DS baby. The breastfeeding process runs with struggle and cannot be purely by breastfeeding directly. The presence of hypotonia in DS’s baby causes the baby to have difficulty sucking, so the baby must be breastfed with the help of SNS containing EBM or DBM. Hypotonia is one of the causes of DS baby’s difficulty in breastfeeding. Many DS babies used the alternative method of getting the nutrient in, with a pacifier bottle or NGT9,10,20,33,36–38. The use of supplementation aids on the breast has been shown to help in the breastfeeding process so that the baby can continue to gain weight well and help maintain the mother’s milk production29,44. To help the breastfeeding process, the simple frenotomy procedure was performed because of the presence of posterior ankyloglossia in the baby. After the frenotomy, the baby could stabilize breastfeeding even though there were still a few falls, even at the mother’s breast. Several studies state that the frenotomy can help improve breastfeeding success45–49, and there was significant weight gain in post-frenotomy babies 45,50–52. Other things that can interfere with the breastfeeding process of DS babies are health problems, including heart defects5,20,38. Heart defects that are often found in DS babies include atrium septal defect (ASD), ventricular septal defect (VSD), Tetralogy of Fallot (ToF), and PDA53–57. Due to these heart defects, the baby usually needs further treatment so that they are separated from the mother and can interfere with the breastfeeding process 5,20,38. In this case, the baby had a small PDA but based on the assessment of the cardiology pediatrician, this PDA will not interfere with the baby’s health and is expected to close itself as the baby ages. The PDA was already closed when the baby was four months old at the heart re-examination.

In this case, the baby also gets oral motor exercise therapy by physiotherapy. Several studies found that oral exercise motor can help strengthen the muscles used for breastfeeding and will later be used for eating and speech58–60. This is again related to the characteristics of DS babies, namely the presence of hypotonia. The combination of physiotherapy and the breastfeeding process helps the muscles of the mouth and face of the baby become stronger61,62. The earlier physiotherapy is done, the better the effect of strengthening the baby’s muscles58,60,63. This oral exercise also helps the baby when starting complementary food. After complementary food, there was a significant weight gain; globally, we can judge that breastfeeding and physiotherapy make the baby’s muscles better and stronger so that no eating problems can be found—early complementary food at the age of 4 months based on references from WHO64. In babies who experience growth disorders, even with an adequate breastfeeding process, it can be recommended to give early complementary food at the age of 4 months65–67. In this case, after complementary food, there is an adequate increase in the baby’s weight, and the use of SNS can be stopped so that the baby only breastfeeds and eat solid. The mother’s testimony can also be seen that the baby enjoys eating so that there are no problems at the time of feeding.

Another therapy given to the baby was the administration of piracetam. Piracetam is widely used in cases with neurological disorders such as in DS68–70. This drug stimulates the nervous system to make the baby more alert to the environment. However, no significant research has stated that piracetam has a good effect on nervous system development in DS babies68,71. Both mother and baby were also given vitamin D supplementation in this case. Based on WHO recommendations, the breastfeeding babies and nursing mothers can be given vitamin D supplementation72–74. The use of vitamin D supplementation is for bone health, helps the immune system, protects against metabolic diseases such as diabetes and hypertension, and protects against cancer 73,75–77. Then the mother was also given lactogog to help increase the mother’s milk production. The administration of lactogog is often done in nursing mothers, although there is no standard for the drug used78–80.

In this case, factors that support breastfeeding success include the mother’s success history of previous breastfeeding, family support, especially the baby’s father, and the support of health workers who understand breastfeeding9,21,34,36,37,43. With all these factors, the mother looks confident to breastfeed her baby and eager to be able to provide breast milk for her baby. Both parents are very obedient to the therapy provided and carry out routine control so that the baby’s growth and development process can be appropriately monitored. Everything that the mother has done with the help of both families and health workers in supporting breastfeeding shows DS babies can still breastfeed and get breast milk.

 

Conclusion

Breastfeeding a baby with DS is possible even with struggle. It takes patience and high motivation from parents and health workers who support this breastfeeding process. All the efforts, in the end, showed that DS babies can still breastfeed and gain weight normally. It is hoped that the effects of both breastfeeding and breast milk on the health of the mother and baby can be optimally obtained by this dyad. The author hopes that more dyads of mothers and DS babies can enjoy the breastfeeding process and succeed in living it even with struggle with this case report.

 

 

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