Table 1 Descriptive summary of relevant studies

[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 Participants reported receiving outdated or misleading information about their condition and lacked direction in how to access coordinated care.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.