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PubMed This is a summary of 13 peer-reviewed journal articles Updated
Cardiology

Long-Term Monitoring & Prognosis in PKS

At a Glance

The prognosis for Pallister-Killian Syndrome varies, but many individuals survive into adulthood. Long-term care requires lifelong monitoring by specialists for vision, hearing, heart, and orthopedic issues, with a strong focus on maximizing your child's comfort, communication, and quality of life.

Planning for the future with Pallister-Killian Syndrome (PKS) involves a shift from the initial “crisis mode” of diagnosis to a long-term strategy of vigilant surveillance [1]. While PKS is a life-long condition with significant challenges, knowing what to monitor and how to support your child’s health can help you navigate the years ahead with more confidence [2][3].

Understanding Prognosis and Outcomes

The “course” of PKS is different for every child. The most significant factor influencing long-term outcomes is the presence and severity of major birth defects found early in life [4][5].

  • Early Risks: In the most severe cases, PKS can be life-threatening during the newborn period or infancy, often due to complications from Congenital Diaphragmatic Hernia (CDH) or severe respiratory issues like subglottic stenosis (narrowing of the airway) [4][6][5].
  • Long-Term Survival: Many children with PKS survive into adulthood [7]. For these individuals, the focus of care shifts to managing chronic conditions like epilepsy, sleep apnea, and scoliosis to maintain the best possible quality of life [8][9].
  • Variable Potential: While severe intellectual disability is common, some individuals have shown near-normal cognitive development, proving that the “map” of PKS is still being drawn [7][10].

A Lifetime of Surveillance

Because PKS can affect multiple systems, regular “check-ins” with various specialists are required to catch and treat issues early [1].

Specialty What They Monitor Recommended Frequency
Cardiology Structural heart issues or high blood pressure in the lungs. Baseline at diagnosis; then as directed [5].
Audiology Hearing loss, which can interfere with communication and learning. Regular intervals (often annually) [2].
Ophthalmology Vision issues like cataracts, strabismus (crossed eyes), or refractive errors. Regular intervals (often annually) [2].
Dental Gum health (gingival hyperplasia) and tooth alignment [1]. Every 6 months [11].
Sleep Medicine Obstructive sleep apnea or other breathing disorders during sleep. As symptoms arise; periodic sleep studies [8].
Orthopedics Development of scoliosis (curving of the spine) or hip issues. Regular physical exams during growth spurts [2].

Managing Quality of Life

Quality of life in PKS is about more than just medical stability; it is about participation and comfort [10].

  • Communication: Finding ways for your child to communicate—whether through signs, pictures, or technology—is a primary goal for many families [12].
  • Sensory Needs: Many children with PKS have unique sensory profiles, such as a high sensitivity to certain sounds or textures. Tailoring their environment to these needs can reduce frustration and improve daily life [10].
  • Support for the Family: Managing a rare disease is a marathon. Connecting with complex care teams or palliative care specialists (who focus on comfort and family support at any stage of a diagnosis) can provide an extra layer of help for both you and your child [3][13].

The long-term goal is not to “fix” PKS, but to provide the multidisciplinary support needed so your child can engage with the world on their own terms [1][13]. Through regular monitoring and early intervention, you can help manage the risks and focus on the joys of your child’s growth [3].

Common questions in this guide

What is the long-term prognosis for a child with Pallister-Killian Syndrome?
The prognosis varies significantly based on early complications, such as congenital diaphragmatic hernia or severe respiratory issues. While some cases can be life-threatening in infancy, many children with PKS survive into adulthood and focus on managing chronic conditions to maximize quality of life.
What medical specialists does a child with PKS need to see?
Because PKS affects multiple body systems, children typically need a multidisciplinary care team. This usually includes cardiologists, audiologists, ophthalmologists, dentists, sleep medicine doctors, and orthopedists.
How often should my child with PKS have their hearing and vision checked?
It is generally recommended that children with PKS receive both hearing and vision evaluations at regular intervals, often annually. This regular monitoring helps catch any hearing loss or vision issues, like cataracts or crossed eyes, early on.
How can we improve the quality of life for a child with PKS?
Beyond routine medical monitoring, prioritizing quality of life means finding effective ways for your child to communicate, adapting their environment to fit unique sensory needs, and enlisting the help of complex care or palliative care teams to support the entire family.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Based on my child's specific medical history, what are the most critical screenings we should prioritize this year?
  2. 2.How often should we repeat heart ultrasounds (echocardiograms) and hearing tests as my child grows?
  3. 3.Can you help me connect with a 'Complex Care' or 'Care Coordination' team to manage these multiple appointments?
  4. 4.What signs of respiratory distress or swallowing difficulty should I be watching for at home?
  5. 5.Are there local or national PKS-specific clinics you recommend for a comprehensive annual review?

Questions For You

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References

References (13)
  1. 1

    Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.

    Bagattoni S, D'Alessandro G, Sadotti A, et al.

    American journal of medical genetics. Part A 2016; (170(9)):2357-64 doi:10.1002/ajmg.a.37815.

    PMID: 27354242
  2. 2

    A review of structural brain abnormalities in Pallister-Killian syndrome.

    Poulton C, Baynam G, Yates C, et al.

    Molecular genetics & genomic medicine 2018; (6(1)):92-98 doi:10.1002/mgg3.351.

    PMID: 29222831
  3. 3

    Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

    Salzano E, Raible SE, Kaur M, et al.

    American journal of medical genetics. Part A 2018; (176(12)):2575-2586 doi:10.1002/ajmg.a.40499.

    PMID: 30289601
  4. 4

    Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review.

    Elsheikh A, Al Shehhi M, Goud TM, et al.

    Oman medical journal 2019; (34(3)):249-253 doi:10.5001/omj.2019.47.

    PMID: 31110634
  5. 5

    Congenital Diaphragmatic Hernia Repair in a Patient With Pallister-Killian Mosaic Syndrome and Left Ventricular Hypoplasia.

    Kostyk P, Salik I

    Cureus 2022; (14(3)):e23095 doi:10.7759/cureus.23095.

    PMID: 35464544
  6. 6

    Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

    Shiohama T, Fujii K, Shimizu K, et al.

    Congenital anomalies 2018; (58(3)):102-104 doi:10.1111/cga.12240.

    PMID: 28745802
  7. 7

    Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

    Izumi K, Ganetzky RD, Wertheim GBW, et al.

    Molecular syndromology 2023; (14(4)):303-309 doi:10.1159/000530197.

    PMID: 37589028
  8. 8

    Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study.

    Fetta A, Di Pisa V, Ruscelli M, et al.

    Frontiers in neurology 2021; (12()):796828 doi:10.3389/fneur.2021.796828.

    PMID: 34975740
  9. 9

    Neuroimaging findings in Pallister-Killian syndrome.

    Barkovich EJ, Lateef TM, Whitehead MT

    The neuroradiology journal 2018; (31(4)):403-411 doi:10.1177/1971400917744798.

    PMID: 29260614
  10. 10

    Cognitive, Behavioral, and Sensory Profile of Pallister-Killian Syndrome: A Prospective Study of 22 Individuals.

    Fetta A, Soliani L, Trevisan A, et al.

    Genes 2022; (13(2)) doi:10.3390/genes13020356.

    PMID: 35205401
  11. 11

    Dental Treatment of a Child with Pallister-Killian Syndrome.

    Didinen S, Atabek D, Kip G, et al.

    Case reports in dentistry 2016; (2016()):4130961 doi:10.1155/2016/4130961.

    PMID: 26998367
  12. 12

    Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.

    Samango-Sprouse CA, Hamzik MP, Rosenbaum K, et al.

    Frontiers in pediatrics 2022; (10()):817133 doi:10.3389/fped.2022.817133.

    PMID: 35372156
  13. 13

    [Pallister-Killian syndrome in a Mexican mestizo patient. Case report].

    Mendelsberg-Fishbein P, García-Delgado C, Muñoz-Martínez LB, et al.

    Archivos argentinos de pediatria 2018; (116(1)):e135-e138 doi:10.5546/aap.2018.e135.

    PMID: 29333839

This page provides educational information on long-term monitoring for Pallister-Killian Syndrome. Always consult your child's complex care team or pediatrician for a tailored screening and care plan.

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