Experiencing Adolescence with the Turner Syndrom

Introduction

Adolescence is a period of incredible change for young people. It is when physical changes are occurring at a hastened rate. Adolescence is not simply set apart by physical changes. Maturing individuals are additionally encountering cognitive, social, emotional and relationship changes as well (Spano, 2004). This case study will explore the different formative changes that 16-year-old Elizabeth has progressed through amid a female developmental genetic condition called Turner syndrome. Turner syndrome is credited to American endocrinologist, Dr. Henry Hubert Turner, who in 1938 published the first manuscript regarding the unusual developmental and physical features of six female adolescents and one female adult (Bradley, 2011). A random error in the parent’s sperm or egg, leads to a missing X chromosome. The condition affects 1 out of 2500 births worldwide, “Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is completely or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects” (Pruthi, 2017). To understand Elizabeth’s unique developmental stages, there must be knowledge of Turner syndrome and its effects on the physical, emotional, social, cognitive, language, and moral developments of an adolescent in relation to developmental theories from Erik Erikson, Jean Piaget, Lev Vygotsky, and Lawrence Kohlberg.

Identifying Information

Elizabeth is the only child of Maria and Jose. She is 16.7 years old. Both parents are professionals and are in their late-thirties. Elizabeth’s father Jose is a pharmaceutical technician and mom Maria is a third-grade elementary school teacher. Elizabeth is 5 feet tall and weighs approximately 150 pounds. She has brown hair, brown eyes, and has physical traits different from the average female in her age group. Elizabeth has masculine features such as broad shoulders, large hands, and augmented body hair. Mom Maria is extremely engaged in Elizabeth’s academics and extracurricular activities. Jose works the graveyard shift and is not as regularly visible at Elizabeth’s activities. The family is close to their extended family: aunts, uncles, grandparents and spend quality time with family regularly. Elizabeth is classified as a junior in high school, where she is enrolled in the Veterinarian Animal Sciences program of the Health Professionals Academy. Elizabeth has been a member of the high school cheerleading program for three years.

Developmental Changes

Physical Development:

Initially, the missing hereditary gene keeps the female body from developing normally. The “SHOX gene is essential for the development of the skeleton. It plays a particularly important role in the growth and maturation of bones in the arms and legs” (Clement-Jones, 2000). For development to occur, specific proteins created by the SHOX gene are required for normal growth, and the deficiency of this protein interrupts normal bone development prior to birth. The unique SHOX gene is located on the sex chromosomes, which are incomplete for the Turner syndrome female. These females lack a vital protein which contributes to their short stature, skeletal abnormalities, abnormal body proportions and early onset of osteoporosis compared to that of their same age peers.

The normal onset for a pubescent female teen is: pubic hair appears, growth of breast, hair growth in the female’s armpits. As these physical developments occur, the female grows in height and hips become wider (Santrock, 2017). For Turner syndrome females, “On average, the transition from infancy to adolescence tends to occur around 7 to 8 years old, and menopause begins between 9 and 11 years old for these girls” (Davenport, 2012). Elizabeth’s physical features are atypical. Elizabeth’s shoulders are broad, she has pronounced hair growth evident on arms and legs, narrow hips, visible thickened hands and feet. Because of her deficient chromosome Elizabeth began Estrogen Replacement Therapy at 11 years of age, and the dosage amount has increased continuously. The estrogen not only helps with mimicking the normal course of puberty, healthy sexual development, lack of breast development, undeveloped feminine curves, delayed or non-existent menstruation, insufficient ovarian development, plus “Research has also shown that starting estrogen therapy at a younger age and treating for a longer period of time results in a greater gain in bone strength” (Hamilton & Hozjan, 2014). Even with the estrogen replacement therapy, a high percentage of Turner syndrome females are infertile before the onset of puberty due to ovarian failure because of the lack of natural estrogen production.

Emotional:

Emotionally, girls with Turner's syndrome have been found to have more difficulties in school and with peer relationships than teens their age (Ross, 1996). As an only child, Elizabeth is sheltered by her mother. Elizabeth is extremely close to her mother and rarely speaks of her father. Frequently, Elizabeth is easily distracted, and has to be prodded to stay on task. When her unsatisfactory focus is addressed, she reacts by cowering, ceasing communication, loses eye contact and rocks steadily back and forth. “Hyperactivity have been documented in younger girls with Turner syndrome, whereas immaturity and anxiety appear to be the central issues for adolescents” (Ross, 1996). Elizabeth tends to show signs of immaturity compared to her peer group, because of the lack of social commonalities. Some examples of the differences are: Elizabeth’s choice of movies and music are for pre-teens, she is not becoming independent of her parents in regard to basic decision making, she lacks focus, she giggles at kissing scenes in movies, compared to her peers who are dating, some of whom are sexually active, driving, and attending concerts or parties with their peers, not their parent. Elizabeth’s impaired social competence and immaturity, when compared to her peers, causes a strain on her peer relationships. Elizabeth’s longing to belong and be included in her peer groups, occasionally causes a lack of confidence and visible anxiety, as Elizabeth will begin to physically rock from side to side, stutter, and occasionally cry. Her communication skills often lack candor and frequently she will speak or yell at inappropriate times causing awkwardness among her peers.

Social:

Erik Erikson’s notoriety came from his research on human development. His theory of psychosocial development states adolescents venture through an evolving stage labeled identity versus identity confusion. Erikson said, “Adolescents are faced with deciding who they are, what they are all about, and where they are going in life” (Santrock, 2017, p. 376). Erikson proposed adolescents face the task of developing a sense of self, asking “Who am I?” and “What do I want to do with my life?” (Manichander, 2016). As they come closer to realizing that they will be responsible for themselves and their future, teens search for what their lives are going to be (Santrock, 2017, p. 376).

“During adolescence, inattention, immaturity, social isolation and anxiety appear to be the most common problems. ADHD is more commonly expressed during this stage of life with girls who have Turner syndrome. They can have anxiety problems which are usually expressed as shyness, a preoccupation with keeping things in order and a lack of flexibility in terms of change in routines” (Mccauley & Sybert, 2006).

“The single best childhood predictor of adult adaptation is not IQ, not school grades, and not classroom behavior, but rather the adequacy with which the child gets along with other children” (Hamilton & Hozjan, 2014, p. 207). Turner syndrome individuals find it difficult interpreting social cues from their peers, which makes them vulnerable for bullying (Hamilton & Hozjan, 2014).

Often Elizabeth’s immaturity makes her oblivious to her social environment. After speaking with Elizabeth, she desires to be a professional in the medical field. As a high school student, Elizabeth’s impairments in nonverbal skills and slowed response times, makes her communication skills weak when interacting with teachers and peers. When her mother Maria is present, Elizabeth is extremely nervous, mom makes all decisions and dictates the conversation. Elizabeth does not take the initiative to socialize with her peers. Noticeably, she will interact with younger elementary school children. Research suggests adolescents not developing their personal identity end up conforming to their parents’ ideas for their future plans and may develop a frail sense of identity. “They will be unsure of their identity and confused about the future. Teenagers who struggle to adopt a positive role will likely struggle to ‘find’ themselves as adults” (Manichander, 2016).

Cognitive:

Cognition reaches its completion in Jean Piaget’s Formal Operational Stage. In this stage the normal developing adolescent’s thoughts are more abstract and less concrete. Teens become proficient in deductive reasoning (Santrock, 2017). Abstract rational becomes comparable to adults. “Children with Turner syndrome are at high risk for learning disabilities, particularly nonverbal learning disabilities and thus often require education tailored to their individual needs. Nearly half of girls with TS may have significant learning problems at school, primarily a major difficulty with arithmetic” (Hamilton & Hozjan, 2014).

Elizabeth is enrolled in the Veterinarian Animal Sciences program of the Health Professionals Academy and is classified a junior. Elizabeth maintains a B average and has passed all of her state assessment exams. Academically, Elizabeth does well, her mathematics classes being her lowest grade, which has always been a high C or low B. Per her mother, Elizabeth does not receive Special Education or 504 support. In the veterinarian program, Elizabeth does struggle, not academically, but with initiative, response time and mature engagement with adults. Elizabeth’s instructor, Dr. David Angerstein is concerned that on a professional level, Elizabeth’s lack of maturity could be detrimental in a clinical setting. He stated, “Her frequent lack of focus, because she is watching cartoons, is frustrating, but academically she is only slightly lower than the average student.”

Language:

Russian Psychologist Lev Vygotsky thoughts on language development differed from Piaget. Piaget believed language depended on an evolving thought process for its development. In contrast Vygotsky said thought and language were initially separate, then began to merge 3 and 7 years of age, producing “self-talk” or “inner speech” (Santrock, 2017, p. 214). For Vygotsky, intellectual development resulted from an incorporation of language, which in turn helped with developing better social communication.

The language characteristics of Turner syndrome have received considerably less attention than other cognitive domains. “Generally, linguistic knowledge and phonological processing (breaking down words into basic units of speech/sound components, or phonemes, as a way to deconstruct language) appear to be a relative strength in girls with TS, including reports of hyperlexia, the ability to read and pronounce longer and unfamiliar words when compared with age-matched peers” (Turner Syndrome Foundation, n.d.).

Elizabeth is a passionate reader. Her vocabulary is extensive, speaking is fluid, and she articulates when she speaks. Elizabeth uses appropriate syntax and context. Her voice is somewhat low for a female and often Elizabeth speaks out of turn or interrupts, but those are maturity problems, not linguistic matters.

Moral:

Moral development includes an individual’s emotional state, thoughts, and behaviors regarding standards of right and wrong (Santrock, 2017). Lawrence Kohlberg suggested individual’s progresses through the following stages: Preconventional Reasoning, Conventional Reasoning and Postconventional Reasoning. Kohlberg maintained the levels occurred in a sequence, adolescents beginning the reasoning phase at stage 3, “Mutual interpersonal expectations, relationships, and interpersonal conformity. At this stage individuals value trust, caring and loyalty to others as a basis for moral judgment” (Santrock, 2017, p. 316).

Elizabeth is extremely childlike, and her circle of friends is somewhat isolated to the students on her cheerleading squad. She values them, as they are very protective of her. Elizabeth’s Conventional reasoning is extremely abiding as she is a good person and respects authority, out of social system morality, but mainly out of fear. Her immaturity lends itself to her conforming easily.

General Assessment:

Compared to females in her peer group, Elizabeth has several developmental inequities because of the chromosomal condition, Turner syndrome. Prior to birth, the condition randomly occurs as a result of an error during the formation of either the eggs or sperm, when one of the two X chromosomes normally found in females is missing. Through prenatal testing and chorionic villus sampling or amniocentesis, Turner syndrome can be confirmed by obtaining cells from the unborn baby for chromosomal analysis and using the blood test Karyotype.

Erikson believed the average adolescent goes through the fifth stage of his developmental theory, where they begin to question how they will fit into society (Santrock, 2017). Unfortunately, Elizabeth’s underdeveloped maturity level demonstrates she is behind the average female her age. Her mother is her constant caretaker and goes beyond the normal engagement in order to safeguard her daughter mentally and physically. Erikson states adolescents not finding resolution during this period, will become withdrawn and isolated (Santrock, 2017). At this time in her life, Elizabeth seems to be in the Identity diffusion phase described by James Marcia. (Santrock, 2017). She is unaware of a crisis regarding occupational or ideological decisions, nor has she thought about them.

By her biological age, Elizabeth should be in Piaget’s formal operational stage, being able to use abstract thinking (Santrock, 2017). Having coached Elizabeth in cheerleading, and had discussions with several of her teachers, Elizabeth has not transitioned from concrete thinking. Directions, assignments, instructions must be very specific for Elizabeth. Allowing Elizabeth to use abstract thought processes, causes her to be anxious. The concrete information has to be repeated in order for her to grasp. Her focus and attention are limited. Thinking “out of the box”, using reasoning or evaluation is still exciting to her, not normal. Her concept of reality is ideal and very black or white: concrete.

Vygotsky “Reasoned that children’s cognitive development is advanced through social interaction with more skilled individuals embedded in a sociocultural backdrop” (Santrock, 2017, p. 215). Elizabeth is an academically sound and kind adolescent. Her ability to be successful in her classes and be a member of her school’s cheerleading program is testament to her and her family, as they deal daily with substantial developmental issues. After constant repetition, Elizabeth is secure with the material and knowledge she has gained. Placing her in normal classes and involving her in extracurricular activities has been productive and beneficial for her.

Elizabeth is currently evolving from Kohlberg’s stage 2 to stage 3. She is beginning to become independent, speak up and pursue her own likes and dislikes in stage 2, and has started to comprehend loyalty, relationships, caring and moral standards from Kohlberg’s stage 3. Elizabeth is comparable to her peers regarding Kohlberg’s stages. Her ability to distinguish right and wrong, has been reinforced by her family and in her educational environment, and has limited Turner syndrome influences.

Conclusion

Turner syndrome has placed Elizabeth at a disadvantage in regard to her development and transition into adulthood. The physical, emotional, and social complications are somewhat balanced by her cognitive, language and moral development strengths. Elizabeth will graduate from high school in 2020 and plans to continue with her education at the college level. Going forward, Maria, Elizabeth’s mom, did state her daughter is infertile and will not be able to have her own biological children. The severity of her medical issues will continue to be a daily struggle throughout Elizabeth’s life span. Her mother continues to gain knowledge and stay recent on Turner syndrome research developments, embraces her daughter’s developmental complications, and continues to do everything she can, to assure her daughter is as normal as she can be, under the circumstances.