Brain Function as related to Learning and Behavior in Turner Syndrome 

Someone may incorrectly assume that TS only affects the body and not the mind.

After all, 90% of individuals with TS have average intelligence with approximately

10% experiencing an intellectual disability. If you read people’s “My TS Story”, you

will notice that some people are highly independent, some highly depend on others,

and the majority of people live somewhere in between.  


The loss of the second sex chromosome often affects the brain's anatomy and ability

to learn and respond to situations as desired. Despite IQ or karyotype, there are

common impairments and learning disabilities related to Turner syndrome (TS) that

may negatively impact educational and work success. 


Those close to someone with TS may recognize or sense differences yet are unable

to determine if and how they should offer advice. If you have TS, you may feel anxious

because you also recognize differences but aren’t sure what to do.

We hear your sadness of struggling in isolation and questioning your abilities.

 

The information below may offer insight into your hardest challenges which are a result of the way your brain processes information and not an indication of how smart you are. Unfortunately, the will to change and attempts to change don’t always result in the expected change. It’s okay to be good at some tasks and struggle (or even be terrible) at other tasks. It doesn’t decrease your worth. If you love or know someone with TS, remember that they are working hard to meet their own and other people’s expectations. 


Understanding the brain’s abilities related to learning and behavior supports appropriate and timely interventions, as well as fosters necessary compassion. The information below outlines the specific findings related to TS, common behaviors or skills related to a weakness or impairment, related diagnosis, and recommended interventions. Professional, thorough evaluations of specific areas may provide more individualized recommendations for treatment. 
 

Brain (Neurocognitive) Functions as related to Turner Syndrome 

Attention, Executive Function, and Working Memory

 

Attention

Summary: those with TS may find it difficult to concentrate, sustain attention, and focus attention on a specific need (called orienting attention)

Outcome: distractibility, poor organization, and the inability to sit still

Diagnosis: increased risk of having ADHD which occurs in 25% of those with TS

Interventions: neuropsychological testing, behavioral therapy - including parent management training, classroom modifications to help in-class behavior, and medications for ADHD when appropriate

                                                                                                                                                                                                                          

 

Executive Functioning

Some professionals use the term nonverbal learning disorder (NLD or NVLD) to describe the unique deficits related to specific executive function deficits such as organization, integration, planning, prioritizing, time management, and self-monitoring. A nonverbal learning disorder is not related to the ability to speak; it is related to difficulties in comprehending communication when someone is not speaking. Nonverbal communication examples are shrugging shoulders, eye-rolling, sighing, personal space, and social norms within different groups. 

 

Summary: people with TS may experience impairments within different areas of the management system of the brain (cognitive) related to planning, flexible thinking, and controlling thoughts and behaviors. It is unclear which impairments may only affect those with attention deficit hyperactivity disorder (ADHD) symptoms. 

 

 Outcome: rigid thinking, which is a result of the brain's inability to control actions and to adapt flexibly to changing environments. Rigid thinking is not related to stubbornness or difficulty. It is important to recognize the frustration someone with rigid thinking must feel. 

A ridged thinker may:

 

•    Actively resist any form of change

•    Attempt to control all situations

•    Resist following the lead of others, which may be viewed as strongly oppositional behavior (pattern of an angry or cranky           mood, defiant or combative, and vindictiveness toward people in authority)

•    Exhibit repetitive self-stimulation (tapping, biting fingernails, organizing, and reorganizing items, rocking, humming, etc.)

•    Insist on following strict, ritualistic routines

•    Have difficulty moving on from strong negative feelings

 

Diagnosis: increased risk of having ADHD which occurs in 25% of the TS population

Interventions: neuropsychological testing, behavioral therapy - including parent management training, classroom modifications to help in-class behavior, medications for ADHD when appropriate.

                                                                                                                                                                                                                           

Working Memory
Working memory is like a temporary sticky note in the brain. It includes skills that allow someone to work with information without losing track of what they are doing. 

•    Summary: those with TS show significant deficits in verbal and visuospatial working memory 

•    Outcome: resulting in challenges in multi-tasking, mental calculations (calculating change or directions), and holding information          in the mind temporarily

Big Picture Processing is difficult for individuals that are detail focused because they process and describe components as a whole concept, rather than each component separately.

The results often include:

- doing more than necessary to reach the desired outcome at the cost of time and energy

- producing work that misses the main point of the task or demonstrates a lack of understanding

- becoming overwhelmed and giving up which may be interpreted as a lack of motivation

- attempting to overcome challenges by redoing work

- difficulty with comparisons and determining how two similar but different objects are alike or different

- retention: learning and initial retention of information appear normal, but the information is often forgotten very quickly

 

  •  Diagnosis: increased risk of having ADHD which occurs in 25% of the TS population•    Interventions: neuropsychological testing, behavioral therapy - including parent management training, classroom modifications to help in-class behavior, medications for ADHD when appropriate.

                                                                                                                                                                                                                           

Intellectual Function

Summary: 90% of those with Turner syndrome typically have average intelligence with approximately 10% experiencing an intellectual disability (IQ below 75). Verbal reasoning is consistently higher than perceptual reasoning.  When there is a large discrepancy between verbal and performance IQ, it generally points to a learning difficulty such as a nonverbal learning disability (NLD) or specific learning disorder.

 

Outcome: poor adaptive skills if an intellectual disability is present

Diagnosis: intellectual disability occurs in 10% of those with TS

Interventions: if an intellectual disability is present, provide appropriate support to optimize adaptive functioning and educational/vocational attainment.

                                                                                                                                                                                                                           

Language and Verbal Reasoning 


Verbal reasoning does not simply mean spoken language; it includes letters, numbers, and the process through which people understand language. Language can be negatively affected if someone has hearing loss or certain executive function skill deficits.
 

Summary:

  • Strong receptive vocabulary skills include excelling at understanding information received through spoken and written words. People are often surprised at their ability to read and pronounce longer and unfamiliar words when compared to peers their age. They respond effectively, even if they cannot produce the words yet, such as “put on your coat”. 

 

  • Strong expressive vocabulary skills. They find it easy to communicate through speaking, gesturing (example- waving), writing (example- texting), expressions (example- smiling), and vocalizations (example-yelling). 

 

  • Sufficient or strong semantic language skills. They understand words, phrases, and sentences, including naming, categorizing, understanding, and recognizing different words, defining words, synonyms, and antonyms, and understanding multiple meanings. An example, “Crash” can mean an auto accident, a drop in the Stock Market, attending a party without being invited, ocean waves hitting the shore, or the sound of cymbals being struck together.

 

  • Strong phonological processing skills support the ability to hear quickly and correctly, and to store, recall and make different speech sounds. Examples of the skill include being able to identify words that rhyme, counting the number of syllables in a name, recognizing alliteration, segmenting a sentence into words, and identifying the syllables in a word. 

 

  • Decreased fluency skills for expressing oneself through the flow, rhythm, and speed of speech.

 

  • Problems with syntactic processing skills lead to errors in word choice, matching numbers and tenses, and placing words and phrases in the right order. In writing, the syntax is used to achieve certain artistic effects, like mood, and tone.

 

  • Problems with pragmatic language consist of the social language skills used in daily interactions with others. This includes conversational skills, the use of non-verbal communication skills, understanding non-literal language, problem-solving, interpreting, and expressing emotions.

 

  • Problems with expressive languages,  such as having difficulty sharing one’s thoughts or ideas or showing understanding of what others are saying. They may use vague words like “thing” or “stuff”, use simple sentences, or have long pauses before speaking. Re-telling an event in his/her own words, explaining to others how to play a particular game, or explaining concepts with a distinct beginning, middle and end may prove challenging. 

 

  • Problems with delayed verbal recall and the ability to remember specific information after a period of rest or distraction from that information. 

Interventions: using verbal strengths to enhance academic and work performance such as oral testing (speaking instead of writing) or verbal presentations to assess acquired skill or knowledge. Consider occupations that rely on verbal strengths. When speech and language issues arise that substantially impact communication or academic performance, a referral to a speech and language pathologist is necessary.

                                                                                                                                                                                                                           

 

Memory Function


Summary: it is unclear if object and location memory may be worse than verbal memory


Outcome: average to low-average ability to remember people’s faces 


Diagnosis: not applicable


Interventions: use verbal strengths in educational curriculum, enhance visual learning by describing materials aloud, and use verbal mnemonics to remember information, such as “Roy G. Biv” (red, orange, yellow… colors of the rainbow)

                                                                                                                                                                                                                           

Motor Function


Summary: poorer performance on perceptual-motor tests, sensory-motor findings less consistent

Outcome: clumsiness, delayed motor milestones (e.g., walking, feeding self, and dressing self), difficulties with writing, tying shoelaces, learning to ride a bike, not recognizing when the face is dirty, or nose is running


Diagnosis: developmental coordination disorder


Interventions: occupational or physical therapy for coaching and training of the specific motor skill, early intervention for preschool-age children, academic accommodations as appropriate for school-age children

                                                                                                                                                                                                                           

Psychosocial Functioning


Summary: social withdrawal, loss of interest or pleasure in activities, distress about teasing or bullying, excessive dissatisfaction with self-concept or self-image, fewer close friendships, marrying at lower rates, less likely to live with a spouse or unmarried partner.


Outcome: low self-esteem, low self-concept, anxiety, depression, and lower quality of life. Visit Everyday Life with TS I Turner Syndrome Society of the United States for more information.


Diagnosis: major depressive disorder, anxiety, adjustment disorder


Interventions

o    Referral to psychologist or psychiatrist for full clinical evaluation
o    Individual psychosocial therapies when suggested/necessary (for example, cognitive behavioral therapy and insight-oriented              therapy)
o    Medications for the treatment of mood and anxiety symptoms when suggested/necessary
o    Peer-to-peer or parent-to-parent contact. TSSUS can connect you with individuals and TSSUS groups (online and in-person). 
o    Ensure puberty occurs on time and aggressively manage predictors of hearing impairment to support positive psychological and        social interactions and psychological/sexual situations.

                                                                                                                                                                                                                           

Sensory Processing   


Sensory Processing relates to how we receive information through our senses, organize the information, and use it to participate in everyday activities. The seven senses include touch (which may be related to lymphedema), sight, hearing, smell, taste, movement (vestibular), and body position (proprioceptive).  


Summary: Although research is lacking, many we hear from many who do not respond to everyday sensory information the same way most people do. They may become overwhelmed by the smallest bit of stimulation or might not recognize extreme sensations such as pain. To determine which senses may affect you, check out About the Senses at twentyonesenses.org.

Outcome: awareness is important for comfort as well as safety. If someone’s child cannot feel a texture, they may lick objects that can be dangerous. If someone doesn’t recognize flashing lights, it compromises safety. Avoiding arguments over situations such as routine hair brushing, or itchy clothing reduces frustrations. Knowing what stimuli bother you helps to determine if you need professional help. Oversensitive people (sensory aversive) react negatively to loud noises, bright lights, and heights, such as swinging, food textures, and may gag easily. Under-sensitive people (sensory seekers) often can’t sit still, seek thrills (love jumping, heights, and spinning), can spin without getting dizzy, don’t pick up on social cues, don’t recognize personal space, chew on things (including their hands and clothing), seek visual stimulation (like electronics), have problems sleeping, and often don’t recognize when their face is dirty, or nose is running.


Diagnosis: sensory processing disorder


Interventions: be familiar with specific triggers and do your best to avoid or reduce the stimulus. An occupational therapist provides sensory integration therapy. A lymphedema therapist works to reduce fluid build-up in the body, which may interfere with the hands and feet feeling objects correctly.

                                                                                                                                                                                                                           

Social Cognition Functioning


Summary

  • Adults with TS have difficulty with experimental tasks, poor classification of fear, gaze estimation, and attribution of mental states.

  • The findings in children with TS are inconsistent. It appears they have average, low-average, or impaired facial processing, and the ability to identify facial emotions (mostly recognizing expressions of anger and fear in others because attention focuses on the mouth and not the whole face), they have average/low-average theory of mind. Theory of mind allows people to conclude or infer the intentions of others, as well as to think about what's going on in someone else's head, including hopes, fears, beliefs, and expectations.

 

 

 

 

 

 

 

 

 

 


 

 

Outcome:

  • Poor recognition of nonverbal facial cues (eye-rolling, frustration, and disappointment), and nonverbal emotional labels (such as “shy,” “hostile,” and “flirtatious”). Both deficits affect relationships and safety. 

  •  Poor ability to maintain an appropriate eye gaze (looking, staring, and blinking) can reveal a range of emotions including hostility, interest, and attraction, as well as the ability to determine if someone is being honest.

  • Difficulty initiating or maintaining peer relationships

 

Diagnosis: social communication disorder or autism spectrum disorder

Interventions:  

  • Referral to psychologist/psychiatrist for further evaluation and treatment of poor social skills, as well as related issues with                   anxiety, depression, or low self-esteem

  • Social skills group therapy through a school or community provider

                                                                                                                                                                                                                           

Visual-Spatial and Perceptual Motor Functioning

Summary: the visual-spatial perceptual process begins with receiving visual stimuli from the environment and usually ends with the unconscious or automatic interpretation of those stimuli.

Summary: Poorer performance on visuospatial tasks and perceptual-motor tests.


Outcome

o   Poor performance in mathematics (dyscalculia)
o   Difficulties with switching tasks, sequencing, and working memory
o   Interpreting abstract visual information like infographics or symbols such as maps.
o   Visual-motor integration which requires hand-eye coordination, resulting in problems in test-taking, difficulty copying information           from one object to another (paper to computer), written material may be poorly spaced (number alignment for math calculations,         handwriting skills), and/or unorganized., and forming letters or numbers correctly
o   Visual memory which allows the recall of information such as situations, objects, places, animals, or people. Examples of deficits         include someone getting lost because they don’t remember the surroundings or because copying information takes more time.
o   Visual tracking and controlling eye movements. There are two types of tracking: maintaining your focus on a moving object and           switching your focus between two objects. Those who have poor visual tracking have more difficulty driving, may confuse one               word for another while reading, have trouble reading different fonts, and play sports that require following a ball.
o   Figure-ground perception causes trouble seeing an image within a competing background. Examples, focusing on one line of print       while reading a book, focusing on one piece of information on a busy computer screen, recognizing individual sounds within               crowded scenes, and understanding speech in noise.
o   Assigning intentional emotional labels (such as “shy,” “hostile,” and “flirtatious”) to visual cues within the upper half of someone’s           face. The resulting problems include difficulty starting or maintaining peer relationships.
o   Space-form perception and being aware of the relative positions of someone’s own body and objects around them. Space                   perception provides cues, such as depth and distance, that are important for movement and orientation to the environment.                 Impairments make driving difficult, such as not knowing if an object is further in distance or just appears smaller.
o   Spatial orientation leading to misplacing or losing items, being late to places, difficulty reading out loud, being unorganized,                 difficulty judging time, and difficulty with mathematics calculations.
 

Diagnosis: learning disorders: deficits or inefficiencies can contribute to both mathematics and reading disorders.


Interventions:


•    Referral for academic support if visuospatial deficits are interfering with academic functioning
•    Referral to occupational therapy to learn compensatory strategies 
•    Receiving an evaluation from a psychologist/psychiatrist and possible treatment of poor social skills and issues with anxiety,               depression, low self-esteem, social communication disorder, and an autism spectrum disorder.
•    Social skills group therapy through school or community provider
•    Using verbal strengths in the educational curriculum


Integrate the following health providers as needed


•    a neuropsychologist (focuses on how the brain works) to perform a neuropsychological evaluation at school entry, in middle school, in later high school, or at any time that difficulties arise. It’s important the evaluator have knowledge of TS-specific cognitive deficits.
•    allied behavioral health services (services provided by social workers, counselors, and psychiatrists) to support the cognitive and psychosocial challenges associated with TS such as:

o    Attention-deficit/hyperactivity disorder (ADHD) – typically inattentive type
o    Autism spectrum disorder
o    Developmental coordination disorder
o    Unspecified neurodevelopmental disorder (nonverbal learning disorder – NLD)
o    Specific learning disorder (SLD)
o    Social communication disorder

•    Refer children for occupational and/or physical therapy in early life or at school entry;  helpful for spatial deficits interfering with           academic/employment functioning
•    Refer children for speech therapy in early life or at school entry

 

When learning or work issues are present, academic or employment accommodations should be made, including tutoring/training, an extension of time demands, and utilizing learning/teaching/training strategies that take advantage of verbal strengths.


•    Utilize learning disability resources for help with intervention and strategy ideas to overcome or minimize deficits.
 

                                                                                                                                                                                                  

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The learning and behavior information was coordinated by TSSUS with support from Dr. Knickmeyer and Dr. Mooney.