Introduction
Background
Methods
Results
Reference | Author, Year and Country | Title | Study Design | Study Population | Diagnosis Disclosure Relevancy |
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[25] | Riggan, K., Close, S., Allyse, M. (2020) USA | Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child | Mixed Methods | Parents/Caregivers of Children with a sex chromosome aneuploidy diagnosis n = 323 | Majority of parents received the diagnosis from a non-genetic medical provider. Few parents reported receiving materials explaining their child’s condition that was up-to-date, accurate and unbiased. Parents receiving the news prior to birth, reported experiencing depression, anxiety and less optimism than parents receiving the diagnosis after birth. |
[26] | Jaramillo, C., Nyquist K., Riggan, J, Egginton, S., Phelan, S., Allyse, M. (2019) USA | Delivering the diagnosis of sex chromosome aneuploidy: experiences and preferences of parents and individuals | Descriptive Qualitative | Parents and individuals who received a diagnosis of SCA. Parents n = 35 Individuals n= 35 | Participants expressed almost unanimous interest in more optimistic portrayals of their condition from providers. Participants reported receiving outdated or misleading information about their condition and lacked direction in how to access coordinated care. |
[27] | Riggan, K., Gross, B., Close, S., Steinberg, A., Allyse, M (2023) USA | ‘Knowledge is Power”: Parental views on the benefits of early diagnosis and awareness of sex chromosome multisomy among pediatric professionals | Inductive qualitative analysis of open-ended survey responses | Parents and individuals receiving diagnosis of SCA. n = 20 | Parents expressed a feeling of relief at learning of the confirmed diagnosis of their child. They reported frustration that non-medical symptoms related to cognitive and neuropsychiatric were not flagged as potential indicators of SCM. Participants suggested that greater awareness of clinicians, educators and other professionals may lead to earlier diagnosis and intervention. |
[33] | Close, S., Sadler, L., Grey, M. (2016) USA | In the Dark: Challenges of caring for sons with Klinefelter syndrome | Mixed methods | Parents with sons who have Klinefelter Syndrome n = 40 | Participants described feeling uninformed and without support to make decisions about managing care for their sons after learning the diagnosis. Results showed that stress, quality of life and family management struggles varied by parent age. |
[34] | Richardson, J.P., Ahlawat, N., Riggan, K.A., Close, S., Allyse, M. (2022) USA | Experiences of individuals receiving a sex chromosome multisomy diagnosis | Mixed Methods | Individuals receiving the diagnosis of sex chromosome multisomy. n = 55 | Participants expressed dissatisfaction with the delivery of the diagnosis from their health care provider and frustrated by the lack of high-quality information and resources offered. Participants described the social and psychological impact of the diagnosis and how it was delivered. |
[35] | Richardson, J.P., Riggan, K.A., Allyse, M (2021) USA | The Expert in the room: Parental advocacy for children with sex chromosome aneuploidies | Descriptive Qualitative Methods | Mothers and father of children with sex chromosome aneuploidies n= 34 Mothers n= 29 Fathers n = 5 | Parents reported that they while they suspected that something was developmentally different with their child, they struggled to get a diagnosis. Parents expressed that when they brought specific symptoms up to their provider, they felt dismissed. |
[36] | Riggan, K.A., Gross., Close, S., Weinberg, A., Allyse, M. (2021) USA | Prenatal diagnosis of a sex chromosome aneuploidy: Parents experiences | Mixed Methods | Parents receiving a prenatal diagnosis n = 122 | Most parents were not aware that they could receive a diagnosis of a SCA with prenatal testing. Participants reported that the diagnosis was delivered in a way that emphasized negative attributes and that they received limited support materials. Participants expressed the need for more supportive delivery of the prenatal diagnosis with a focus on parental education and nuanced discussion of potential phenotypes. |
[37] | Bourke, E., Snow, A., Herlihy, D. Amor, D. Metcalfe, S. (2014) Australia | A Qualitative Exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis | Descriptive Qualitative Method | Parents of children born with Klinefelter Syndrome n = 15 Mothers n = 10 Fathers n = 5 | Results show that parental experiences were complex and multifaceted including the timing of when the diagnosis was received, who provided the diagnosis, and what information was provided by health care providers. |
[38] | Dennis, A., Howell, S., Cordeiro,L, Tartaglia, N. (2015) USA | :How should I tell my child?” Disclosing the diagnosis of sex chromosome aneuploidies | 2 Surveys | Parents of children with sex chromosome aneuploidies n= 139 Individuals with sex chromosome aneuploidies n= 67 | Most frequent topics of concern for parents focused on learning disabilities and genetics. Parents reported frequently accessing websites, support groups and discussion with physician. Parental concerns included making the diagnosis conversation age-appropriate, discussing infertility when indicated and thinking ahead about the child’s self-esteem. Parents and individuals endorsed disclosing the diagnosis early, before puberty and continuing discussions over time. |
[39] | Aliberti, L., Gagliardi, S., Bigoni, S., Lupo, S., Caracciole, A., Ferlini et al. (2022) Italy | Communicating the diagnosis of Klinefelter syndrome to children and adolescents | Mixed methods | Parents of children and adolescents diagnosed with KS. Parents n = 77 Individuals n = 41 | Results suggest that most parents of children with KS and Individuals with postnatal diagnoses KS should have communication about the condition prior to the age of 14 years, while those with prenatal diagnosis consider that the best timing is between ages of 14-18 years. |
[40] | Gratton, NC., Myring, J., Middlemiss, P., Shears, D., Wellesly, D., et al. (2016) United Kingdom | Children with sex chromosome trisomies: parental disclosure of genetic status | Study 1: Descriptive qualitative method using parental focus groups. Study 2: Secondary quantitative analysis of diagnosis disclosure from a large data set | Study 1 34 parents of N = 12 females with 47,XXX N = 22 males with 47, XYY Study 2: Parents of XXX n= 54 XYY n = 53 XXY n = 19 | Study 1: Decisions about disclosure of diagnosis to child were affected by the child; level of cognitive, social and emotional functioning. Parents were more likely to disclose if their child was experiencing difficulties. Study 2; Older children were more likely to know their diagnosis and a substantial proportion tended to be told before 11 years of age. Age was not associated with difference across diagnostic groups. |
[41] | Tremblay, I., Van Vliet, G., Gonthier, M., Janvier, A. (2016) Canada | Partnering with parents to disclose Klinefelter syndrome to their child | Case Study and narrative review | Case report of an 11-year-old boy with a prenatal diagnosis with Klinefelter syndrome whose parents and health care provider had not disclosed the diagnosis to him | Disclosure decisions are complex involving cognitive limitations of the child, respect for parental autonomy in deciding when to disclose and the child’s right to know. Health care providers may face an ethical dilemma in considering all viewpoints and may feel uncomfortable when there is misalignment between what parents believe to be in the best interest of their child. |
Parent informational needs
Communication strategies
Post-diagnosis support and adaptation
Timing of diagnosis
Disclosing the diagnosis to the child and community
Discussion
Association of X & Y Chromosome Variations (AXYS) | The AXYS organization provides information to patients, families, and health care providers online and in printed materials | |
AXYS Clinic & Research Consortium | Information about Regional Multidisciplinary Clinics within the US | |
AXYS Klinefelter (47, XXY) CME Course | These modules provide 2.5 CME credits. The course is accredited by Wake Forest University | |
National Organization for Rare Disorders | Patient Advocacy Organization dedicated to individuals with rare diseases and organizations that serve them |
Specialty Referrals |
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Genetics/Genetic Counseling |
Endocrinology |
Neuropsychology |
Gastroenterology |
Reproductive GYN and Urology |
Psychiatry |
Behavioral Specialist |
Social Work |
Speech and Language Therapy |
Occupational Therapy |
Prepare for the Visit | • Inform yourself about the specific diagnosis prior to the communication • Resources for providers are offered in Table 2 • Partner with a genetic counselor who is well-equipped to explain genetic underpinnings and specific information according to SCM |
Mode and Manner of Delivery | • Allow enough uninterrupted time to spend with patients/families • When possible, deliver the diagnosis in-person or by Telehealth technology rather than over the telephone • If circumstances prohibit in-person delivery, the diagnosis should be communicated when the parent is in a quiet and confidential location • Providers should proactively inquire as to whether the parent wishes their child to be present when the diagnosis is delivered |
Parent Questions & Concerns | • Begin the visit by inquiring about their specific concerns and questions • Check back frequently to be sure that information is being understood • Suggest that this conversation may be ongoing and may need to occur over more than one visit to allow parents time to process the diagnosis and determine their questions • Provide reassurance that the child’s health and well-being is the primary focus of care |
Explanation of SCM Condition | • Provide a brief and clear explanation of the specific SCM condition and describe any additional special health surveillance that might be required • Direct patients and families to well-vetted and accurate information sources such as www.genetic.org or https://rarediseases.org/ • Advise patients and families to be cautious about receiving information from general search engines and social media sites • Provide supportive reference material ideally written in lay language |
SCM Prevalence & Genetics | • Become familiar with prevalence by SCM: 47, XXY (1 in 600), 47, XYY (1 in 1000),47, XXX (1in 1000) and 48, XXYY (1 in 80,000) • Explain that physical, behavioral, and psychosocial features vary among the SCMs and among individuals • Explain that the SCM is a random event during egg and sperm development and that it was caused by anything the parents did or didn’t do before or during the pregnancy • Be prepared to offer a warm hand-off to a genetic counselor for more information |
Follow-up Care and Next Steps | • Inform parents of medical management and health surveillance recommended for the specific SCM • Be proactive in assembling a team of specialists for referrals as required |
Additional Support Considerations | • Be ready to refer parents and individuals to the national advocacy organization (AXYS) and for social support through regional and local support groups • Referral to a professional counselor may be beneficial for additional emotional processing of the diagnosis • During the course of the child’s care, be prepared to counsel parents about how they would like to disclose the diagnosis to their child, to family members and to others |
Misconception | Explanations |
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Persons with SCM are more likely to exhibit criminal behaviors | Studies from the 1960’s and 1970’s conducted in prisons or other institutionalized populations erroneously concluded that people with SCM, especially Jacob syndrome, are at higher risk of sexual deviance and criminality. These conclusions are not supported by larger observational studies of children diagnosed as infants or prenatally, as well as studies characterizing neuropsychology of these conditions. Individuals with some SCM conditions do experience challenges with executive function, impacting judgment, decision-making, emotional regulation, and impulse control that may render them more likely to interact with legal and educational authorities and this should be clearly distinguished from criminality |
SCM are associated with sexual orientation or gender identity | Based on the association with the sex chromosomes, there is a common misconception that SCM impacts gender identity and/or sexual orientation. A distinction should be drawn between SCM and intersex conditions. Although there is a spectrum of gender and sexuality in individuals who have SCM, there little evidence showing links between SCM and gender dysmorphia and/or sexuality |
All persons with SCM are infertile | Because SCM have historically been under-diagnosed, many individuals previously received an unexpected diagnosis when seeking fertility care. This has led to a misconception that all individuals with SCM are infertile and cannot have biological children. People with SCM may have reduced fertility. For example, Klinefelter syndrome does result in testicular insufficiency and azoospermia, but advances in assisted fertility procedures allow approximately half of individuals with Klinefelter to biologically reproduce. Several clinics in the US now offer fertility procedures to achieve pregnancy with gametes from individuals with SCM |