XXX Syndrome: early learning and sensory developmental implications

This rare but potentially devastating condition affects girls born to older mothers.  And as we as OT’s working in schools and preschools have already observed, many of our “first time moms” are often in their late thirties and early forties.

It is not a given that all older moms give birth to children with issues.  But in the case of XXX Syndrome that is one of the prominent factors.  XXX Syndrome is characterized by the presence of an additional X chromosome in each cell of female children/fetus.  If the extra X chromosome occurs only in some of the cells it is called a mosaic, and has less developmental impact.  It is not an inherited condition and usually occurs during conception and is related to a delayed or incomplete splitting of the egg during fertilization.  Occurrence is about 1 in 1,000.

XXX Syndrome can be mild to severe in its developmental impact. These children are often very tall, have vertical skin folds in the corners of their eyes, delayed motor skills, speech and language difficulties and various associated learning disabilities.  Other issues include social skill issues, self-esteem and related personality and psychological issues.

In preschool, these little girls “look” like their peers but just seem a “bit off”.  Following directions, engaging in-group tasks, frustration with following verbal directions and creative activities are often difficult for these children. In addition these children are often very dependent upon the teacher or authority figure for guidance and demonstrate little independent initiative.  It is as if, at a very early age they have learned that they cannot “go it alone”.  Behaviors are often unpredictable with the exhibition of task aversion in one situation and the ready engagement in another.

To better understand the profile of a XXX little girl, the following excerpt from an assessment is provided.  The name and identifying information has been removed.  This little girl was about 5 years old. She had a tested functional IQ of 130.  Treatment goals and summary are included to help give a template of potential treatment planning.  It is extremely important to be sensitive to the parents in these situations.  “Jane’s” mother blamed herself for “waiting” to have a baby and said that it was “her egg” that caused the “problem”.  Helping parents see function not dysfunction and encouraging them to seek counseling can be as much a part of your occupational therapy treatment as the actual interventions with the child.  In addition, it is important to stress to the parents that these children will not “outgrow” these concerns.  They may “morph” into other actions/behaviors, but they do not self-resolve.  Therefore stressing the importance of early intervention and that this is not a “quick fix” should be discussed at the onset of treatment.

                 Summary of Functional Responses

                       Scored as strengths, emerging (present but not fully developed) and a concern

                            Strengths

·                 Galloping

·                 Imitating basic one-sided postures

·                 Dominance on right

·                 Hop one foot and two feet

·                 Balance on left foot eyes open (stronger than on right)

·                 Stack blocks to 10

·                 Scissor use

·                 Jumping forward

·                 Ability to sustain self in task with supports

·                 Knew colors

·                 Knew shapes

·                 Heel toe walking forward

·                 Able to connect dots

·                 Tracing

·                 Able to respond positively to structure

·                 Could state opposites

                           Emerging

·      Catching a ball

·      Jumping backward

·      Write name

·      Right/left awareness

·      Copy skills

·      In-hand manipulation

·      Block designs to 3

·      Making choices

·      Awareness of 2-deminsional boundaries

·      Draw a person

                       Concerns

·      Skipping

·      Heel toe walking backward unassisted

·      Crossing midline of body with opposite side

·      Figure ground discrimination issues

·      Part-whole perception

·      Perceptual constancy

·      Spatial organization

·      Emotional stability reactions in unfamiliar tasks

·      Using both side of the body during a task

·      Grasp

·      Fear of failure

·      Targeting with a ball

·      No nystagmus

·      Places elbows into side of body for stabilization

·      Pencil/crayon control

·      Visual scanning

·      Task initiation

Classroom suggestions

1.                                    Pair verbal directions with visual demonstrations; possibly have Jane assist when providing the class with a demonstration for an activity.

2.                                    Ask her to repeat (and partially demonstrate) directions to assure understanding.

3.                                    Minimize visual/auditory distractions as much as possible.

4.                                    Encourage correct posture for deskwork (left hand stabilizing paper, appropriate pencil grasp).

5.                                    Encourage Jane to participate in activities to build muscle tone and motor planning such as; performing different yoga positions.

6.                                    Allow Jane to keep her hands busy with a fidget toy or squishy ball.

7.                                    Allow Jane extra time to complete activities.

8.                                    Encourage visual tracking skills by highlighting choices on activities.

9.                                    Encourage and/or allow her to go first when performing group gross motor activities to encourage initiation with task.

10.   With tasks that she knows how to do such as putting on her shoes, do not assist her—encourage independence in self-cares and known tasks.

                Summary

             Jane presented as a bright, timid young girl who found it difficult to separate from her mother, however shortly after she entered the testing area she “warmed up” to the OTR. Maximum encouragement was required from OTR to encourage participation in testing.

Present performances seemed to be negatively impacted by her visual perceptual, visual motor skills, and low tone.

                   During testing, Jane had a difficult time performing fine motor and visual perceptual- motor activities as noted by her inability to cross midline and visual track the items viewed. She showed the ability to identify shapes but was unable to reproduce the images onto paper. When faced with familiar and unfamiliar challenges such as copying pictures or identifying appropriate choices, she immediately became fearful of the challenges and broke down and started crying. Her reactions outlined the characteristic of a child that is having difficulty with translating visual information into appropriate motor responses; this is another common characteristic of Dysgraphia.

Jane became extremely frustrated by her lack of performance as demonstrated through her slow initiation and response to tasks. Maximum encouragement, visual and verbal prompting was required by the OTR, however it was noted that she 90% of the time only accurately responded and participated when visual cues were provided. This was the same behavior observed within her classroom when noted that she did not perform the drawing activity when auditory directions were given, instead she performed after she looked at the images drawn by her classmates.

Many of the sensory motor issues such as low functioning tone and no nystagmus response as noted during Jane’s evaluation, stems from her sensory system not receiving the appropriate feedback in order to organize the incoming information needed to produce functional movements. These issues can be related to a known disorder commonly known as Sensory Processing Disorder (SPD). Children often unknowingly seek out other ways to receive the sensory input that is missing. In Jane’s case, these issues are affecting her ability to perform age appropriate tasks, therefore causing her extreme anxiety and frustration.

                 Jane is a great candidate for being able to benefit from occupational therapy interventions.  She is very bright, and when supported,  is very motivated to acquire new skills.

Goals

1.         Increase tone and co-contraction abilities

2.         Increase visual tracking.

3.         Increase hand manipulation and finger isolation skills

4.         Increase following directions and task-planning abilities.

5.         Stimulate vestibular  (nystagmus) responses inclusive of but not limited to balance and reciprocal movement patterns.

6.         Increase crossing the midline of the body and gross motor movement patterns; such as skipping, somersaults, etc.

7.         Facilitate a more functional pencil grasp.

8.         Increase problem-solving abilities.

9.         Increase frustration tolerance and the acceptance and ability to benefit from corrective remarks.

10.   Teach the Sensible Pencil Program.**

**I particularly like the Sensible Pencil Program™ for early writers because of its guided worksheets and prewriting picture format.