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Back To Module ListModule Main | Module Description | Instructional Outcomes | Instructional Proficiencies | Instructional Events | Instructional EvaluationSection 504
Author
Jane Swiss, Ed.D., University of Saint FrancisWill
Background:
Will was born into a middle class family as the first son and brother to two sisters ages 9 and 14. Mother reported some unusual symptoms toward the end of the pregnancy but the neonatologist was unable to diagnose the problem. Will was delivered vaginally after 6 hours of labor. Of some significance, it should be noted this was the first vaginal delivery after a C-section (resulting from a placental abruptia with the last pregnancy two years prior). At birth, Will presented soft signs of placental insufficiency. Those signs included redundant skin folds on the back of the head and neck, pale color, low muscle tone, poor sucking reflex, weak cry, unusual hair (kinky/knotted) and, temperature instability. After 3 long months of unusual symptoms, Will was admitted to MR Hospital where he was diagnosed with Menkes’ Disease. The following information (Chang, C. H., University of California at Davis) will assist you in learning more about Menkes’.
International Frequency: Incidence is 1 in 50,000 to 1 in 250,000; one third of cases result from new mutations. A study in Japan from 1993-2003 found that Menkes’ disease incidence was 1 per 2.8 million live births and 4.9 per million male live births.
Mortality/Morbidity:
- The classic from is usually lethal by age 3 years; however, survival to the late 20s also has been reported.
- Recurrent respiratory and urinary tract infections are common.
Sex:
- Menkes disease is an X-linked recessive condition and, therefore, usually affects boys through unaffected carrier women. The disease can be due to germ line mosaicism.
- A few affected females with X:autosome translocations, X0/XX mosaicism, or unfavorable lyonization have been reported.
Age:
- The onset of the classic form is in infancy.
- The milder variants have their onset in childhood or early adulthood.
History:
- Children with the classic form usually present at 2-3 months of age with the following:
- Loss of developmental milestones
- Profound truncal hypotonia
- Seizures, including infantile spasms
- Failure to thrive
Physical Description:
- Abnormal kinky hair, eyebrows, and eyelashes
- Short, sparse, coarse, twisted
- Shorter and sparser on the sides and back
- Often lightly or abnormally pigmented; can be white, silver, or gray. In ethnic groups with black hair, the hair can also be blonde or brown.
- Abnormal facies
- Jowly with sagging cheeks and ears
- Depressed nasal bridge
- High arched palate
- Delayed tooth eruption
- Progressive cerebral degeneration
- Loss of developmental milestones
- Seizures
- Profound truncal hypotonia with appendicular hypertonia
- Temperature instability
- Ocular manifestations
- Ptosis
- Visual inattention
- Optic disc pallor with decreased pupillary responses to light
- Iris hypoplasia and hypopigmentation
- Connective tissue abnormalities
- Loose skin at the nape of the neck and over the trunk
- Joint hypermobility
- Polypoid masses, which can be multiple, in the gastrointestinal tract
- Umbilical and inguinal hernias, which can be bilateral
- Bladder diverticuli
- Dilated ureters
- Vascular defects
- Arterial rupture
- Lumbar and iliac artery aneurysms
- Thrombosis
- Skeletal changes
- Multiple congenital fractures, deformities
- Osteoporosis
- Metaphyseal spurring and widening
- Diaphyseal periosteal reaction
- Scalloping of the posterior portion of the vertebral bodies
- Pectus excavatum
- Wormian bones
- Bleeding diathesis
- Renal calculi
- Occipital horns can also be present in patients with the classic form of Menkes’ disease and have been noted in patients as young as age 2 years.
Cognitive Abilities: Children like Will with the classic form of Menkes’ are functioning within the Intense Intervention disability category and in addition are medically fragile. Will’s cognitive abilities were difficult at best to measure since his ability to communicate was extremely limited often to vocalizations and eye movements. The use of assistive technology was also limited since there was no intentional movement of the extremities. Will required a feeding tube and depended on his family for all of his care giving needs (e.g., bathing, dressing, positioning). Will demonstrated some inconsistent developmental milestones the first year of his life (reaching, grasping, following objects, smiling).
Social Skills: The ability to demonstrate moods/emotions was compromised by lack of speech however, once you become familiar with Will’s vocalizations and eye expression, you were able to know his mood, likes and dislikes, and need for socialization. He enjoyed music (i.e., Joan Biaz), lights especially Christmas lights, and having the family cat Max sit close to him. He would make soft vocalizations when his siblings held his hand, face, or back as they talked to him. He loved the taste peppermint and ice cream but not lemon.
Educability: The following may be best matched using infant goals
- Improve communication options through eye blinks, hand movement
- Encourage social interaction with peers and care givers
- Maintain functioning
- Assess sensory integration
- Increase sensory awareness and alertness through stimulation
- Tasting – provide experiences with different flavors, different textures, different temperatures
- Smell – assess reaction to different smells (connect with tastes he enjoys such as peppermint), incorporate as a possible sensory avenue for stimulation
- Tactile – provide experiences with different textures,
- use soft shapes and animals (puff-a-lumps, pound puppies) for positioning
- touching bubbles with guidance
- grasping objects
- animals with hot water bottle holder or dolls with mechanical movement mechanism (heartbeat doll)
- Auditory – provides experiences with different sounds including music, natural & nature sounds (running water) and talking (read children stories or conversations on tape)
- Visual – provides experiences with different stimuli such as bubbles, lights; introduce color recognition, large picture cards (facilitated communication)
- Physical/Mobility - include time rocking in a chair, a vibration seat, a lay down swing
- Verbal/Vocalization – assess and encourage Will to use other vocalization (cooing & roaring) for communication and preferences more consistently; consider a verbal behavior program
- Train teachers and staff as related to Will’s medical challenges
- Positioning
- Feeding (via tube)
- Suctioning
- Seizure activity
- Fragile bone and skill condition
- Medication needs
Family Stressors:
- Need for privacy
- Need for family time with children – doing typical activities
- Sleep issues
- Education responsibility as related to Menkes’
- Preparing for and dealing with the full range of effects of Menkes’ Disease
- On-going medical complications (bladder surgery, lung infections, broken femur)
- Professional time out - Mother
- Support from family, friends, and church
- Comfort with diagnosis
- Feelings of hopelessness
- Value systems
- Nursing care
- Financial issues
- Transportation concerns - safety
Coping Strategies:
- Counseling
- Friends
- Nurses
- Corporation for Menkes’ Disease
- Routines (one day at a time)
- Tunnel vision
- Maintaining a purpose, being positive
- Exercise
- Pets
Resources:
- Use assistive technology & augmentative devices
- Wheelchair
- Heated waterbed – temperature instability
- Feeding equipment (including feeder seat)
- Natural cotton and untreated wool clothing
- Natural fur (rabbit or lamb) rug
- Cotton flannel covers for wheel chair and feeder seat
- Special diapers
- Suction machine
- Puff-a-lumps & pound puppies for positioning
- 24-hour nursing
- Medical resources including doctors & hospitals
- Parent group (medical and personal support and preparation)
- Counseling (parents & siblings, and genetic)
- Insurance benefits
- Teacher & therapists (OT & PT) ideas for
- Positioning
- Stimulation
- Feeding (natural food product)
- Scrapbook for “how to” position
- Medications
- Family & Friends
- Pets
Family Wants:
- Quality of life
- Maintenance of sensory awareness
- Communication options
- Normalcy
- Use minimal technical/medical equipment (puff-a-lumps for positioning)
- Keep Will in the family setting
- Participate in holidays and school activities, encourage siblings friendships in home
- Individual time with siblings
- Minimize stress for siblings
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