Breastfeeding Challenges Faced by a Baby with Angelman Syndrome: A Case Study
by Caoimhe Whelan, IBCLC in Private Practice
This case report describes the breastfeeding and bottle feeding challenges faced in the first 6 months of life by baby Leo, who was subsequently diagnosed at 12 months with Angelman Syndrome (AS).
The main challenges that affected feeding for baby Leo (and which are perhaps typical of babies with AS) were:
- Weak suck and poor tone
- Delayed swallow reflex of 2 – 4 seconds
- Poor suck swallow breathe coordination
- Laryngomalacia with variable stridor
When Leo was feeding, the normal swallow reflex was not being triggered in time, so milk was spilling into his airway. This presented as coughing, wet noises and dribbling, but these symptoms were attributed to laryngomalacia.
Despite help from myself and a Speech and Language therapist,baby Leo never managed to feed well at the breast and no improvements were ever seen. He was able to latch with a nipple shield, and did try to feed, but the delayed swallow caused him to aspirate and choke.
Attempts at breastfeeding for baby Leo and his mum Joan were unsuccessful and stressful as Leo’s delayed swallow prevented him from being able to coordinate suck swallow breathe and resulted in him aspirating on milk. It was important for Joan to understand why feeding was so challenging for Leo and to grieve for the loss of the breastfeeding relationship.
I worked with baby Leo and his mum Joan over a 2-month period with a view to helping her transition from exclusive expressing to breastfeeding. However, Leo never managed to successfully breastfeed and always had difficulty feeding from a bottle. When he was 12 months old, he was diagnosed with Angelman Syndrome (AS), a rare and complex neuro-genetic disorder of chromosome 15 which prevents the normal expression of the UBE3A gene (needed for normal neurologic functions). AS is characterised by developmental delay, intellectual disability, lack of speech, sleep disturbances, seizures, movement/balance disorder, and a happy demeanour. Other associated characteristics include tongue thrusting, suck and swallow disorders, feeding issues in infancy, prognathia, mandibular hypoplasia, macrostomia (wide mouth) and frequent drooling.
AS affects 1 in 20,000 – 25,000 babies. It can be difficult to diagnose because its’ typical characteristics are not apparent during the first 6 months of life and it shares characteristics with autism, cerebral palsy and Prader-Willi Syndrome.
Angelman babies generally have difficulty breastfeeding and bottle feeding due to severe oromotor dysfunction – dysphagia, poor suck swallow breathe (SSB) coordination, aspiration, tongue thrusting and hypotonia. Many fail to gain weight appropriately in the early months.
Leo’s diagnosis helped us understand his feeding difficulties. The main issues for him were a delayed swallow and aspiration.
My client Joan O’Herlihy has given written consent for publication of this case study and photographs.
History and Observational Assessment
Leo was born vaginally at 36 +4 to his 38-year old mother Joan, gravida 2, para 2, following induction due to prolonged spontaneous rupture of the membranes. He weighed 2.86 Kg and his Apgar score was 9.
Leo struggled to feed at the breast in the first few days in hospital due to a poor suck and sleepiness. He was supplemented with formula until his mother established expressing. Leo was discharged from the hospital on day 3, bottle feeding infant formula and human milk.
Baby Leo continued to have difficulties latching and transferring milk at the breast. A healthcare professional identified an anterior tongue tie and on day 15 (38+5), a scissors frenotomy was performed. The provider suggested that Leo had a ‘short tongue’ which could potentially impact breastfeeding.
Later that day, Leo was admitted to hospital due to sleepiness and lack of interest in feeding. He was diagnosed with viral meningitis and a urinary tract infection. During the 2-week hospital stay, Joan expressed and bottle fed. Baby Leo was, however, slow and sloppy feeding from the bottle.
Following discharge, Joan continued expressing and bottle feeding, and occasionally tried breastfeeding, without success.
I visited my client Joan when Baby Leo was 7 weeks old (4 weeks corrected). The purpose of my visit was to help her transition from exclusive pumping to breastfeeding. I felt concerned about Baby Leo as soon as I saw him, as it was very apparent that he was underweight. He weighed 3.54 Kg, just 680g above his birth weight.
We decided to try feeding him at the breast using a nipple shield. My notes from the consult state:
“It took some time, but Baby Leo eventually latched. He seemed to have difficulty swallowing and coordinating SSB. He was either trying to feed or breathing. Milk kept spilling back out of his mouth. This was distressing for his mother.”
Joan then attempted to feed Leo expressed human milk in a bottle. This was equally challenging – he struggled to coordinate SSB and there was a lot of milk dribbling from his mouth. I determined that Leo was ‘not tolerating oral feeds.’
Normally during a breastfeeding consultation, I do oral and structural assessments of the baby. However, in Leo’s case I didn’t as I felt that putting my fingers in his mouth might contribute to oral aversion. And given that he was so underweight and tense, I didn’t feel it would be appropriate to do a structural assessment. My notes from the consultation state “Baby Leo appeared to me to be thin and stressed. Not a happy baby.”
My advice to Joan following the consultation was
- Bring Baby Leo back into the hospital where he was treated for meningitis.
- Don’t attempt breastfeeding again until Leo is stronger and gaining weight appropriately.
Baby Leo was admitted to hospital later that day and kept in for 6 days.
During that time, Joan expressed and bottle fed. Leo was seen by a Speech and Language therapist and a FEES (fibreoptic endoscopic evaluation of swallowing) study was done. Leo was diagnosed with Laryngomalacia. Symptoms noted were ‘SSB incoordination’, ‘stridor’ and ‘inefficient feeder’. Joan was shown how to bottle feed using the elevated side lying technique, and some improvement in feeding was noted.
Following discharge from hospital, Joan continued to express and bottle feed. She found it challenging – especially the long feeding sessions and the ongoing disappointment of failed attempts at breastfeeding.
I saw Joan for a follow-up visit when Leo was 10 weeks old, again with a view to transitioning to breastfeeding. We tried Leo at the breast, and while he was willing, it seemed too challenging for him. He latched well with a nipple shield, but his SSB coordination was poor and feeding attempts resulted in respiratory distress.
I supported Joan to continue expressing and reassured her that Leo would probably feed at the breast when he was ready – basing this assumption on what we know about laryngomalacia; that often these babies don’t breastfeed well until around the 6 month mark.
Baby Leo never fed successfully at the breast. Joan continued to express and bottle feed until Leo was 6 months old, and she did occasionally attempt to feed him at the breast, but it was always stressful for both of them. Bottle feeds were slow and Leo was a sloppy feeder. He would often choke and cough during feeds. No great improvement was ever seen in feeding technique.
When he was almost 12 months of age, Baby Leo was diagnosed with Angelman Syndrome.
This information closed a loop for me and helped us understand why Baby Leo struggled so much with breastfeeding – because he just wasn’t able! Babies with Angelman syndrome generally struggle to breastfeed and bottle feed due to severe oromotor dysfunction (dysphagia, tongue thrusting, aspiration and poor SSB coordination) and hypotonia.
Two months afterLeo’s diagnosis, a videofluroscopy (VFS) revealed a neurological swallow profile; he had a delayed swallow reflex of 2 to 4 seconds and was aspirating on all fluids. This explains the coughing and choking that Leo often did during feeds. He was trying to expel milk that had gotten into his airway.
When I searched the literature for studies on Angelman syndrome and breastfeeding, I didn’t find any.
In this case presentation, the main feeding difficulties that Leo had in the early weeks were (and which are perhaps typical of babies with Angelman syndrome) are:
- Weak suck and poor tone
- Delayed swallow reflex
- Poor SSB coordination
- Laryngomalacia with variable stridor
- Slow and sloppy bottle feeding
- High palate and short tongue
When he was feeding, the normal swallow reflex was not being triggered in time (normally it is triggered by presence of a bolus at the valleculae at the base of the tongue), so milk was spilling into his airway. This presented as coughing, wet noises and dribbling, but these symptoms were attributed to laryngomalacia.
As an IBCLC working with this dyad, we didn’t get the outcome that we had hoped for. Leo never fed well at the breast. However, I gave Joan emotional support – I wasn’t able to ‘fix’ breastfeeding, but I acknowledged her challenges and I listened, and I continued to follow up with her by email.
As IBCLC’s we cannot underestimate the power of providing emotional support in difficult situations and holding space for a parent who is struggling. We give them the message “Yes, I know this is hard for you. I am here to listen and support.”
The loss of a breastfeeding relationship for a parent can be heart-breaking and can mean feelings of deep sadness and grief. Joan said
“I longed for the connection of breastfeeding, but he just couldn’t.”
However, understanding why Baby Leo couldn’t breastfeed has helped Joan. And seeking answers as to why it took so long to identify Leo’s feeding difficulties has been important for her. She suggested I write this case study and I am grateful to her for that, as it has been a huge learning opportunity for me. I also hope that it will help her gain some clarity on the multitude of issues she and Leo faced in his first year of life.
To read more about baby Leo and Angelman Syndrome, you can follow Joan’s blog at https://www.facebook.com/angellionleo/
Conflict of Interest Statement
Conflicts of interest: None.
Van Buggenhout, G., Fryns, J.P. (2009). Angelman Syndrome (AS, MIM 105830). European Journal of Human Genetics, 17(11):1367-1373.
Angelman Syndrome Ireland. (2012). Parent Information Leaflet. http://www.angelman.ie/
Williams, C.A., Driscoll, D.J., Dagli, A.I., (2010). Clinical and genetic aspects of Angelman syndrome. Genetics in Medicine 12, 385-395.
Simons, Jeffrey P., Greenberg, Laura. L., Mehta, Deepak. K., Fabio, A., Maguire, Raymond. C., Mandell, David. L. (2016). Laryngomalacia and Swallowing Dysfunction in Children. Laryngoscope, 126(2): 478-484.
U.S. National Library of Medicine, (2015). Angelman Syndrome. https://ghr.nlm.nih.gov/condition/angelman-syndrome