Psychological and neuropsychological problems of Turner syndrome

Turner Syndrome was already described for the first time in 1768, although it was systematized in 1938 by Dr. Henry Turner. It consists of a genetic disorder that generally manifests itself from birth and affects only girls.

In this PsychologyOnline article, we will focus on the Psychological and neuropsychological problems of Turner syndrome.

It's because total or partial loss of the second X chromosome. Instead of the complete 46, XX karyotype, these girls frequently (55% of cases) show a 45, X karyotype in all their cells, or with less frequently (18%) a 45, X / 46, XX mosaic karyotype (some of its cells have lost an X chromosome and others have not), or very rarely (7-10% of Turners) a more complex karyotype in which there are fragments of an X chromosome or a Y chromosome, or a ring chromosome (45, X + rX). Other genetic karyotypes have been described in Turner syndrome, but their frequencies are very low.

Turner syndrome 1 in 2,300 girls born alive carry it

Girls with Turner, if they do not receive specific treatment, show in more than 50% of cases: low stature (1.45 m tall), poor development of sexual characteristics primary (atrophic and streaky ovaries) and secondary at puberty, amenorrhea, sterility, or great difficulty conceiving (only 1.5% conceive spontaneously without problems), specific elbow deformity (cubitus valgus), broad chest (in shield), widely separated nipples, short and wide neck, low hair growth line, lymphedema (retention of lymph in hands or feet), cardiovascular disorders especially the aorta.

They can also appear, but in less than half of the cases: winged neck (excess skin in folds or pterygium colli), rotated ears, horseshoe kidney, strabismus and myopia, hearing problems, abnormal palate, andscoliosis, nevus and moles, ptosis (droopy eyelid), hypothyroidism, hypertension, food intolerances, gonadal tumor.

Not all girls with Turner syndrome show the same degree of physical involvement, and the alterations vary considerably from one to another. Although not entirely accurate, it is accepted that girls with mosaic 45, X / 46, XX have less severe physical symptoms than those with 45, X karyotype.

The basic treatment consists of: contribution of growth hormone (GH) with or without oxandrolone around 5 years of age of the girl, contribution of hormones (estrogens) from around the age of 13, and surgical or drug symptomatic treatment to correct or alleviate disorders associated with syndrome.

Until a couple of decades ago, the study and intervention of the possible neurocognitive deficiencies that Turner syndrome may entail has been neglected. For two reasons: because they are not identified as "major or main symptoms" such as physical ones, and because they are not generally of great intensity. We can distinguish:

• Global disorders. They have a very low frequency of appearance:
  1. Mental deficiency. The overall cognitive developmental development of the girl is usually normal, and her mental age matches that of her chronological age. Mental deficiency occurs with a very slight higher frequency than in the general child population, and in children cases in which a karyotype with X or ring fragments is usually detected in the genetic analysis (45, XrX).
  2. Other pervasive developmental disorders, autism type. The frequency is identical to that of the general group of children.
  3. Dementia (loss of already consolidated mental abilities). It does not appear linked to Turner syndrome.
• Partial deficits. They are the most frequent appearance, but also of great variability of presentation. In some cases, they can weigh down school performance. Their detection is subtle and sometimes very specific neupsychological batteries are needed. The responsible genetic alteration is thought to be located in the short arm of the X chromosome inherited from the father, specifically in the pseudoautosomal region (PAR1) Xp22.33. Right hemisphere functions are more severely affected with lobe hypofunction temporo-parietal and occipital, as well as EEG slowing (greater quantity and amplitude of theta and delta waves). We can say:
  1. Problems generating or / and understanding abstract concepts.
  2. Minor ability to plan and carry out multi-phase tasks.
  3. Difficulty handling the numerical factor (mathematics, calculations).
  4. Difficulty with the visual-spatial factor (drawing, plans, interpreting faces).
  5. Deficit to maintain active attention.
  6. Mild hyperactivity or psychomotor restlessness.
  7. Insomnia.
  8. Non-verbal memory deficit, especially short-term memory.
  9. Verbal IQ is usually higher than manipulative IQ.

It is considered that they are more linked to the experiential reactions of the girl, adolescent or mature woman, and not so much they are due directly to the phenotypic expression of the Turner genetic problem. For this reason, they are extraordinarily variable according to different investigations by various authors. But in general we can differentiate:

• Child psychological problems.The most studied have been:
  1. Delay in emotional maturity, generally related to the overprotection of parents towards their "sick" daughter. For this reason, these girls can also be more dependent on their parents or teachers.
  2. General childishness.
  3. Anxiety, nervousness (it is debated whether there may also be an endogenous basis).
  4. School adaptation and integration problems (few social skills).
  5. Need for pre-established routines, external order, to avoid changes.
• Youth psychological problems.They are cited as possible:
  1. Greater dependence on the family of origin.
  2. Later age of onset of sexual activities.
  3. Worse acceptance of one's own body and distortion of the body scheme.
  4. Poor self esteem
  5. Social relationship problems, "stage type" social anxiety.
  6. They have fewer and younger friends than theirs.
  7. Higher degree of anxiety and dysthymia than the control group.
• Psychological problems of adult women:
  1. Few university graduates in technical and scientific careers. But practically the same proportion of graduates or graduates in humanities or careers "of letters" than the general population.
  2. Lower proportion of women who form stable couples.
  3. Less enjoyment of sexual intercourse (higher incidence of anorgasmia, low sexual desire or rejection of sex).
  4. Vulnerability to social and adaptation problems.
  5. Poor self-concept in specific areas (child-youth trauma).

This article is merely informative, in Psychology-Online we do not have the power to make a diagnosis or recommend a treatment. We invite you to go to a psychologist to treat your particular case.