Problem-Solving: Sensory Normalization with Rubinstein-Taybi Syndrome

Question:

I recently started treating a 2-year-old little girl with Rubinstein-Taybi syndrome in outpatient feeding therapy. She has had a G-tube since she was 1 month old and has barely eaten PO. I am just trying to get her to take PO to get her to a VFSS, as the last VFSS she had, she aspirated after the swallow due to residuals in pyriforms. No cough response at the time. She is literally so averse to even a dry spoon touching her lips, she tightens her lips and turns her head no matter how many times I do it in an attempt to desensitize her. The one time I touched a dipped spoon to her lips, she had a moderate-severe gag response. And the amount of vanilla pudding in the bowl of the spoon was so minimal, I couldn’t really lessen it….we just went back to a dry spoon. I’ve tried the Honey Bear straw, I’ve tried a spoon with cold water, Dum Dum lollipops….no luck. I’m really at a loss. We’ve had 4 sessions so far and no progress…and even possibly a regression, as she now won’t even sit in the high chair for more than 10 minutes without getting restless, reaching out, wanting to play and/or sit on parents laps. She has no verbal communication, only whining and reaching arms out. She can identify some things but it’s inconsistent. However, I know her receptive language and memory are her strengths. Any suggestions/feedback/advice is greatly appreciated! I need all the help I can get with this little one.

Answer:

Normalizing her sensory-motor/postural system (through partnering with a sensory integration trained OT) and normalizing her oral-sensory system will be a critical first step. PO feeding skills are built on a well integrated sensory system, often a key area of need for children with this diagnosis.

A swallow study likely isn’t a next step for her until she is accepting well graded positive oral sensory input. There is likely some level of swallowing impairment that won’t be fully understood until the sensory system is normalized, which will allow her to then begin to accept trace tastes of purée to eventually support an instrumental assessment of swallowing physiology.

Her progress will be slow due to her underlying diagnosis and a sensory system that has been impaired since birth. These systems are complex, require heavy neuro underpinning and require new sensory- motor maps be created in the brain through child-guided well graded sensory motor learning. Co therapy with an OT focused on sensory treatment with SI intervention would be a great facilitator. Parents can learn along with you about the need to think of small steps “toward” eventual PO but that is not the immediate goal due to the many little steps of learning required before she is truly ready to eat/drink orally.

Problem-Solving: Former Preterm with Beckwith Wiedemann Syndrome

Question:

I have a 34 week premature infant with Atrial flutter and Atrial septal defect that I just started seeing who has Beckwith Wiedeman Syndrome. The pediatrician recommended solid food feedings due to not taking his formula consistently. Mom only gives him baby food at night and he eats about half a container but seems to enjoy it. He had a MBS since he was receiving thickened formula with oatmeal on 6/5/19. He was clear for thin liquids via Avent level 1. He got frustrated with nipple so SLP in outpatient ok’d him to use Avent level 2. According to his MBS, he had oral transport/lingual motion impairment and oral residue. His swallow response is impaired at level of pyriforms, laryngeal elevation and anterior hyoid excursion are also impaired. At rest, child’s tongue protrudes and when he sucks on the bottle and when spoon feedings are tried, he has a tongue thrust. Coughing is noted during bottle and spoon feedings and when the bottle is pulled out of his mouth every 2-3 sips to help him breathe, he seems to have difficulty latching onto the bottle. I’ve tried palpating gently under his chin and noticed his tongue recessed into his mouth for a brief time, and have tried a ‘j scoop’ with the spoon when fed him. I just wonder what other treatments you would recommend I try since his doctor wants to try therapy before surgical treatment of macroglossia.

Answer:

Sounds like he is a former 34 weeker who you are following in the community. What is his adjusted age now?

Being a former preemie, as opposed to a former full term infant, adds some other challenges to his BWS that might be playing a role, such a respiratory co-morbidities. Sounds as though he was sent home from the NICU as a full oral feeder, but quality may not have been part of the assessment for readiness to be a full PO feeder, rather volume was.

What looks like tongue thrust may actually be the tongue moving forward with onset of motion, due to the lack of space in the oral cavity for his enlarged tongue as it moves posteriorly and an adaptive response on the part of the infant to maintain his upper airway.

Sounds like he was sent home without any respiratory support to assist with airway maintenance. Many infants with BWS require trachs to assure a consistent patent upper airway. Even so, some who manage to be discharged without airway support can readily destabilize a fragile upper airway with the act of swallowing during feeding. The need for the base of tongue to retract, and the large thickened blade to move posteriorly as part of the swallow, can actually “create” a sense of further airway obstruction with the act of swallowing. In addition, the thickened blade with intrinsic tongue muscles that lack thinning and cupping can create challenges with bolus control orally.

The macroglossia also can alter mandibular alignment, leading to subluxation. It also inhibits a closed mouth posture, which can work against establishing the necessary anterior seal on the bolus to help drive the swallow.

Often behaviors during feeding may be related to the struggle during feeding to manage the bolus and maintain the upper airway, and can lead to adaptive behaviors, which then create maladaptive feeding behaviors and long-term struggles with eating/drinking.

Sounds like with Avent 1 flow in radiology there was a delay in swallow initiation with premature entry to the pyriforms. It is likely the bolus is poorly managed due to the adverse effects of BWS noted above, so it would be important to objectify the effect of the change/increase in flow rate with Avent 2 on his swallowing physiology, as his physiology sounds precarious. The coughing with spoon and bottle suggest fluid has approached or entered his airway.

Even if he there was no witnessed aspiration or laryngeal penetration during the VFSS (which is a moment in time), he is at high risk for airway invasion and onset of aversions due to the struggle to feed. Most events of aspiration are silent in the infant population,  and he is also giving us some signs, so he is likely more worrisome.

I think the doctor’s well-intentioned goal of wanting him to PO feed before surgery may have been made without his understanding of the impact of BWS on swallowing physiology and the swallow-breathe interface, and may be counter productive and perhaps not safe for this former preemie. Muscular and structural restrictions such as those with BWS often require us to take a step back and look at the co-morbidities and their overriding influence on swallowing physiology not just on intake, which is at times challenging for our medical colleagues.

Problem-Solving: Late Preterm with Sequelae from Mandibular Hypoplasia

Question:

I am presently working with an 8 month old who is s/p cleft palate repair, x 1 month. She is an ex 35 weeker with a trach and PEG tube. Her list of problems/diagnoses: Pierre Robin Sequence, Peter’s anomaly, ASD, Stankiewitcz-Isidor Syndrome, retrognathia, and micrognathia. Currently, she eagerly accepts the pacifier and bottle. We are using Dr. Brown’s level 1 with the valve but this flow seems a little fast and are trying the Newborn level. However, her tongue pulls back and therefore is not wrapping around the nipple for traction. She gets approximately 10-15ml in 30 min only due to compression. Any time that I attempt to put a gloved finger on top of her tongue to work on drawing it forward she gags. At best she reluctantly allows my gloved finger with formula just to the tip of her tongue. Any recs? Also, what resources/books do you recommend for infants/children with cleft palate?

Answer:

I think right now the cleft is the last important factor and is likely not contributing to what you are seeing with PO attempts. Her complex co-morbidities make a her a fragile feeder,  I would think, with high risk of silent airway invasion. The muscular and structural restrictions to the mandible, and therefore, to the tongue (glossoptosis) associated with the Pierre Robin and Peter’s Anomaly, likely lead to adaptive behaviors in an attempt to protect the airway. That then leads to the maladaptive behaviors you are seeing. My guess is her trach was placed  to establish an airway (not for long-term ventilation), so without a PMV (which she cannot wear due her airway obstruction), she also has no taste, no smell and has no subglottic pressure for airway protection. I would not PO with what I know, but rather, work on readiness non-nutritively right now. ENT would be very helpful  to guide your plan of care by assessing growth and readiness for decannulation in the future.

Problem-Solving: Initiating PO Feeding in the NICU

Question:

My colleagues and I have been discussing the age at which to start bottle feedings. I realize it will depend on the child’s development, their history, their stress level, and rooting behavior. But in writing a policy for the NICU for cue Based Feeding I was hoping for a starting age. We’ve said 33 weeks or greater. I have a NICU manager who is pushing for 32 weeks, and a neonatologist who wants to stay away from a defining age. Currently we have “CBF to begin 33 weeks or later. Any infant younger than 33 weeks to be assessed by speech therapist first.” But that last statement has yet to be approved. And I was hoping to have literature to back the age. Any feedback is much appreciated.

Answer:

The question about when NICU infants initiate PO feeding is of course multi-factorial, so PMA (post-menstrual age) is just one factor. Unfortunately, while it puts us in “the ballpark”, it has little value in and of itself. The PMA has significance, I like to say, in the context of the infant’s co-morbidities and history. Considering only PMA without regard for co-morbidities and history can lead to first PO feedings that are physiologically stressful, adversely affect neuroprotection and set the stage for feeding early onset refusals as a result, as you know. Some infants at a particular age, for example, 37 weeks PMA may not be ready/appropriate to PO, often due to the sequalae from their co-morbidities and history.

As I teach across the US regarding NICU feeding/swallowing practice, the earliest I have heard PO feeding being initiated is 31 weeks PMA. This has typically been a healthy preterm stable on unassisted RA and with a clean history; but even then, readiness of requisite subsystems, such as postural/head/neck control and state modulation, may not be available for that infant, and the suck-swallow-breathe interface is likely quite precarious. Asking the infant to feed 9 weeks prior to his due date would be worrisome. The push to “get infants out” and the desire to “get infants home” has created undue pressure on the infants, staff and in-turn on families to “get it in”.

Perhaps that is why the neonatologist is suggesting avoiding a defining age and is looking instead, hopefully, at a more global assessment of the infant. Alternatively, he/she may be leaving the door open to push harder unfortunately . Carrie Anne’s reference should be helpful but unfortunately Dr. Pickler often has a focus on “practicing” PO as a benefit and the pathway to good outcomes. While some in the NICU think “practice makes perfect” when it comes to feeding, unfortunately, when feeding attempts are ill-timed or are not truly supportive, then “practice”  only makes “permanent”   the emotional overlay and activation of the HP axis/cortisol release associated with physiologic stress in preterms, that likely co-occurs with trying to feed and struggle. Contrast that with an infant-guided feeding approach , truly cue-based PO feeding, that focuses on the experience and neuroprotection, versus intake.

Individualized readiness using multiple factors, one of those factors being PMA, is ideal an most supportive of neuroprotection. I am not aware of any research that has specifically determined “the age” to start, as so many variables indeed must be taken into account as I referenced above. That would be a hard study to do and do well. My thought is that 33-34 weeks PMA is likely most typical across the US based on feedback I solicit in every city I teach. If you can help to build criteria that encompass not only age (PMA), but a more comprehensive look at the infant, then perhaps there will be room purposefully built in to individualize and assess that unique infant’s readiness in the setting of his co-morbidities and history.