Pfeiffer syndrome type 2 is a rare autosomal dominant genetic disorder resulting from premature fusion of the skull sutures. The premature fusion of the skull sutures can significantly impact brain growth, which may lead to problems associated with overall development and nervous system function. It falls under the umbrella term of velo-cardio-facial syndrome.
Table of contents
Pfeiffer syndrome type 2 is characterised by premature fusion of the skull sutures, midface hypoplasia, high prominent forehead, broad and deviated thumbs and big toes, and partially webbed fingers and toes (Vanek & Losan, 1982). Further characteristics may include eyes that are wide-set, an underdeveloped jaw and a beak-like nose. Children born with Pfeiffer syndrome type 2 are more often than not born with a conductive hearing loss, complications with dentition and congenital heart defects.
A holistic approach is vital in influencing the assessment, diagnosis and intervention required for the total management of patients with Pfeiffer syndrome type 2. Children with Pfeiffer syndrome type 2 generally present with abnormal neural transmissions in their auditory brainstem responses, which later on may cause peripheral and central auditory processing disorders (Church, Jenkins, Rozzelle, Eldis, & Kazzi, 2007). Auditory processing disorders can influence the acquisition of language skills, causing potential problems with listening, reading, spelling, written language and memory. Therefore, the speech pathologist will have an ongoing role as the child develops to enhance communication potential. Children with Pfeiffer syndrome 2 will more than likely have speech sound production difficulties due to conductive hearing loss as a child and may find it difficult to hear certain speech sounds. Furthermore, children with Pfeiffer syndrome type 2 often have early feeding difficulties presenting with oral hypersensitivity and sensory defensiveness (Morris & Klein, 1987). The speech pathologist plays a vital role in incorporating activities to create more sensory awareness during meals in order to reduce oral hypersensitivity, as well as improving oromotor function to enhance speech sound development.
This paper will provide a detailed interpretation of the case data pertaining to a patient, aged 1 year. Our patient suffers from a rare genetic defect known as Pfeiffer syndrome type 2. Pfeiffer syndrome type 2 is a rare autosomal dominant genetic disorder characterised by premature fusion of the skull sutures, midface hypoplasia, broad and deviated thumbs and big toes, and partially webbed fingers and toes (Vanek & Losan, 1982). A holistic management approach was therefore necessary to comply with the complex needs faced by this client. For this particular case, a holistic approach was important in influencing the assessment, diagnosis and intervention processes involved for the total management of this client. Various key issues were also identified and addressed in managing this challenging patient. This paper will therefore highlight and discuss the holistic approach taken for this particular client, demonstrating knowledge of contributing factors that are important to the total management of the client.
Our patient was diagnosed with Pfeiffer syndrome type 2 after tests were performed in order to rule out other potential causes for her atypical appearance. These tests revealed mutations on the fibroblast growth factor receptor 2 (FGFR 2), therefore providing substantial evidence (in line with presenting physical characteristics) of Pfeiffer syndrome type 2. Our patient was initially breastfed with some bottle-feeding due to her feeding skills being somewhat sporadic.
At approximately four months of age, Our patient’s mum reported some significant respiratory complications that required further attention. At this time, our patient was also admitted for three separate cranial surgeries to relieve neural pressure. She was placed on a nasogastric tube during these procedures, however, was transferred to a Percutaneous Endoscopic Gastrostomy (PEG), as she had developed a strong gag reflex and was experiencing significant gastroesophageal reflux. Our patient’s primary nutrition source has been via the PEG since eight months of age. Our patient’s gastroenterologist placed her on increased doses of Losec and Domperidone to manage her severe reflux. Since the PEG was inserted, no upper respiratory infection or problem with a respiratory condition has been reported.
Our patient also had several hearing tests, which revealed a moderate hearing loss. This may be due to ongoing middle ear infections. Our patient’s mum has indicated that she babbles, however, has not produced any words at this stage of development. Her gross motor skills are limited due to low tone and reduced range of movement, and her fine motor skills are performed inadequately due to the presence of webbed and deviated fingers.
In the management of this particular child, a holistic approach was necessary to provide optimal direction across the whole diagnostic and intervention process. In particular, it was important to address key issues according to priority of care and need based on the ICF model. For more information about the ICF click here.
For our patient, it was important to incorporate various clinical and medical staff to facilitate both diagnosis and intervention. The first priority was to ensure that surgical procedures were carried out efficiently and effectively to support the need of her growing body and atypical appearance. Consultation with medical professionals was sought, and various surgical procedures occurred to optimise the physical and functional status. This required various input and intervention from a range of medical professionals including the paediatrician, neurologist, gastroenterologist, plastic surgeon and ENT surgeon. This group of medical staff were vital and will continue to be critical in providing ongoing support and intervention. It was important to liaise with family members in order to set realistic goals to be met as part of the service delivery.
Our patient’s mum indicated that since the PEG was inserted, she has tried excessively to promote an optimal feeding environment, by introducing her to various tastes and textures. Our patient had displayed food aversion behaviours by crying and spitting out any food or texture placed in her mouth. This co-occurred with oral hypersensitivity. Our patient did not enjoy various textures or tastes around, or in, her mouth and her mum became very emotional when discussing the behaviour regarding food. Her first priority would be to manage feeding. The speech pathologist was required to assist with this key issue targeting our patient’s oral hypersensitivity and feeding difficulties, as well as improving communication.
Physiotherapy sessions were then prioritised to assist with postural support when sitting, and hand and shoulder range of movement. Priority was then shifted to address fine motor skills. The occupational therapist was required for this, in order to assist range of movement, as well as to implement strategies to improve fine motor skills as she develops. The family also suffered tremendous grief due to the emotional stress of constant hospitalisation for our patient and need for ongoing surgical procedures. The psychologist was appointed to offer counselling and provide support concerning the emotional stress, assisting the family through these turbulent course of events. Finally, the social worker was required to address these key issues by linking the family to support networks, as well as liaising between the various professionals involved in management.
A holistic approach for our patient is vital in influencing the assessment, diagnosis and intervention required for the total management of the client. As her skull is already fused, she will require major ongoing surgeries to relieve neural pressure as her brain grows and forms (Oyamada, Ferreira, & Hoff, 2003). This may impact her cognition, motor skills and hearing, as well as vision (Oyamada et al., 2003). These skills play a major role in the development of her growing body. Furthermore, medical staff may play a role in assisting our patient to overcome challenges associated with her physical appearance. Her atypical appearance may limit her social development due to barriers that influence her opportunity in society (Beukelman & Mirenda, 2005). This may include the reluctance of other individuals to engage with our patient, because of her physical appearance and her delayed development skills (Beukelman & Mirenda, 2005). Our patient or her parents may feel it is beneficial in the future for her to undergo further surgery to address her atypical appearance. Therefore, the ongoing support of medical staff plays a vital role in the long-term assessment, diagnosis and management of this specific case.
The role of the speech pathologist was critical, based on the goals that the family perceived as important. The goals included management of aversive food behaviours due to the long-term effects of being PEG fed, as opposed to oral fed. This created frustration for the family at mealtimes, as our patient would refuse to eat or trial any tastes of foods or fluid. The speech pathologist’s role was to reduce oral hypersensitivity and sensory defensiveness. Children with a lowered sensory threshold generally find it difficult to cope with high levels of sensory information, and therefore become hypersensitive to various tastes and textures (Morris & Klein, 1987). When surrounded by such sensory information, the child often becomes easily frustrated and fearful, demonstrating defensive behaviours to food that feels, tastes or smells dangerous to their system (Morris & Klein, 1987).
Our patient’s oral sensory system is rarely exposed to various textures and tastes, due to limited oral sensory activity since her birth. The speech pathologist therefore incorporated activities to stimulate and reduce oral hypersensitivity. Vibratory stimulation was used to rouse the tongue and cheeks with a small battery-operated hand vibrator. This was done in order to create more sensory awareness during meals that involve manipulation of the tongue and cheeks (Morris & Klein, 1987). The speech pathologist also introduced various tastes exploring spicy, tart and sour foods, as well as ice and toys with different textures and configurations. This was to stimulate the sensory threshold to reduce her oral hypersensitivity (Morris & Klein, 1987). Hard foods (such as infant teething rusks) were placed on the side of her mouth, in order to encourage simple chewing patterns with lateral movements of the jaw and tongue toward the side of food placement (Morris & Klein, 1987). When our patient became accustomed to the chewing movements, various flavours were added to the rusk, in order to slowly trial various tastes and textures. This is particularly important as oromusularture movements required when eating and drinking are vital in the early development of language and speech (Morris & Klein, 1987).
Ongoing support will be needed from the speech pathologist to assist language development. Her constant middle ear infections may affect her language development causing negative effects on her language learning (Paul, 2001). Hearing loss due to constant middle ear infections impact on both her receptive and expressive language (Paul, 2001). Children with Pfeiffer syndrome type 2 generally reflect abnormal neural transmissions in their auditory brainstem responses, which later on could cause peripheral and central auditory processing disorders (Church, Jenkins, Rozzelle, Eldis, & Kazzi, 2007). Auditory processing disorders can influence language skills later on, causing problems with listening, reading, spelling, written language and memory. Therefore the speech pathologist may have an ongoing role with managing participative restrictions by assisting with her receptive and expressive language development.
Our patient has difficulties with fine motor and gross motor skills. Children with Pfeiffer syndrome type 2 generally display difficulties with gait due to low tone (Oyamada et al., 2003). These children often have difficulty with fine motor tasks due to the presence of broad and webbed fingers (Church et al., 2007). The physiotherapist plays an important role in this holistic approach to management, providing ongoing intervention. Her webbed and deviated fingers may also cause difficulty when self-feeding and writing. Therefore, the role of the occupational therapist is vital for improving independence for fine motor skills as she develops. Both her fine and gross motor skills play an important role in her ongoing management, in order to reduce restrictions to participation.
The uncertainty of our patient’s future, as well as the issues that she and her parents may experience, can contribute to feelings of depression (Feit & Feldman, 2007). This grief may need to be addressed with ongoing medical support. This will improve both her and her parents’ emotional wellbeing. The role of the psychologist is important for providing counselling with issues related to feelings that our patient or her family may experience. The social worker also plays a vital role in this holistic approach by linking the family to support networks, as well as providing counselling as necessary to both our patient and her family.
A holistic approach is very important for the optimal management of children with special needs. This approach will ensure the most appropriate assessment, diagnosis and intervention is implemented. The combined care of many health professionals will ensure optimal managment. Furthermore, a holistic approach will help minimise potential barriers and will also facilitate participation in everyday life and a better quality of life for those with special needs.
Contact us for results focused speech therapy in Sydney
This article was written by our speech pathologist Eugene Pillay who is a Speech Pathology Australia member.
To find out more about how speech therapy can help people with Pfeiffer Syndrome or special needs, or to make an appointment with one of our speech pathologists contact us today.
Beukelman, D.R., & Mirenda, P. (2005). Augmentative and alternative communication: Supporting children and adults with complex communication needs (3rd ed.). Baltimore: Brookes Publications.
Church, M.W., Jenkins, L.P., Rozzelle, A.A., Eldis, F.E., & Kazzi, S.N. (2007). Auditory brainstem response abnormalities and hearing loss in children with craniosynostosis. American Academy of Paediatrics, 119(6), 1351-1360.
Feit, D., & Feldman, H.M. (2007). The parent’s guide to speech and language problems. New York, NY: The McGraw-Hill Companies.
Morris, S.E., & Klein, M.D. (1987). Pre-feeding skills. Arizona, USA: Communication Skill Builders.
Oyamada, M.K., Ferreira, H.S., & Hoff, M. (2003). Pfeiffer syndrome type 2 – case report. Sao Paulo Medical Journal, 121(4), 176-179.
Paul, R. (2001). Language disorders from infancy through adolescence. Philadelphia, USA: Mosby, Inc.
Vanek, J., & Lasoan, F. (1982). Pfeiffer’s type of acrocephalsyndactyly in two families. Journal of Medical Genetics, 19, 289-292.