What are the recommended revisions to the Individualized Education Program (IEP) for a 7th-grade student with a history of infantile scoliosis, kyphosis, hemivertebrae, and genetic conditions including ANKRD17-related neurodevelopmental disorder and Charcot-Marie-Tooth disease?

IEP Recommendations for 7th Grade Student with ANKRD17-Related Neurodevelopmental Disorder and Charcot-Marie-Tooth Disease

This student requires comprehensive IEP revisions with mandatory physical therapy, occupational therapy, and speech-language services, along with formal neuropsychological reevaluation every 3 years to address the complex neurodevelopmental, motor, and musculoskeletal challenges inherent to their genetic conditions.

Immediate IEP Service Requirements

Physical Therapy Services

• Mandatory ongoing physical therapy to address progressive motor impairments from Charcot-Marie-Tooth disease, which causes distal muscle wasting, weakness, and skeletal deformities 1, 2
• Focus on maintaining functional mobility and preventing secondary complications from scoliosis and kyphosis, as approximately one-third of CMT patients develop progressive scoliosis that typically requires intervention 3
• Address foot deformities and gait abnormalities characteristic of CMT disease 1, 2

Occupational Therapy Services

• Essential occupational therapy targeting fine motor deficits and visual-spatial processing difficulties common in neurodevelopmental disorders 4
• Specific interventions for writing difficulties, including assistive technology evaluation for students who have trouble writing quickly or reading their own handwriting 4
• Accommodations should include computer use and extended time for written assignments and tests 4

Speech-Language Pathology Services

• Comprehensive speech-language evaluation and therapy addressing receptive and expressive language, articulation, and social/pragmatic communication skills 4
• Language comprehension assessment is critical, as deficits in this area can lead to overestimation of the student's capacities 4

Formal Neuropsychological Assessment

Schedule comprehensive neuropsychological testing immediately, with reevaluation every 3 years through transition periods 4

The evaluation must assess:

• Cognitive profile including verbal IQ, performance IQ, and full-scale IQ, noting that discrepancies >10 points between verbal and performance IQ render full-scale estimates less valid 4
• Executive function, sustained attention, memory, and visual-spatial perception - domains typically impaired in neurodevelopmental disorders 4
• Adaptive functioning and daily living skills, particularly important at this transition period from middle to high school 4
• Learning profile with specific attention to mathematics and language comprehension difficulties, which are ubiquitous regardless of IQ 4

Educational Accommodations and Supports

Academic Modifications

• Extended time on all tests and assignments to accommodate processing speed deficits and motor difficulties 4
• Reduced writing requirements with computer-based alternatives for assignments 4
• Preferential seating to address potential visual or hearing concerns pending specialist evaluations
• Modified physical education accommodating musculoskeletal limitations from scoliosis, kyphosis, and CMT-related weakness 1, 3

Classroom Support Strategies

• Visual aids and written instructions to supplement verbal directions, addressing potential language comprehension deficits 4
• Organizational supports for executive function deficits, including checklists, planners, and structured routines 4
• Frequent breaks to address fatigue, which is a major concern in complex neurodevelopmental conditions 4

Required Medical Evaluations to Inform IEP

Ophthalmology Evaluation

• Immediate comprehensive eye examination to assess for refractive errors, strabismus, and other visual abnormalities that could impact learning 4
• Vision problems are common in genetic syndromes and can significantly affect academic performance 4

Audiology Assessment

• Formal audiogram with tympanometry to rule out hearing deficits that may compound communication difficulties 4
• Hearing evaluation should be repeated annually given the genetic conditions 4

Psychology/Psychiatry Evaluation

• Screening for attention deficit hyperactivity disorder (ADHD), anxiety disorders, and autism spectrum disorder, which commonly co-occur with neurodevelopmental disorders 4
• Assessment should occur in the context of the student's cognitive and language abilities, as certain therapeutic modalities may not be effective with weak verbal/cognitive skills 4
• Monitor for depression and anxiety, which are underrecognized in students with complex medical conditions 4

Endocrinology Consultation

• Evaluation for growth, thyroid function, and calcium/parathyroid status, as these can affect cognitive function and overall development 4

Gastroenterology Assessment

• Evaluation for feeding, swallowing, gastroesophageal reflux, and constipation issues that may impact school attendance and participation 4

Monitoring and Reassessment Schedule

Critical reassessment at transition to high school (8th to 9th grade) is mandatory, as IQ decline over time is common in neurodevelopmental disorders, with concomitant decrease in mainstream placement and increased need for assistance 4

Annual Reviews Should Include:

• Physical examination with specific attention to scoliosis progression using scoliometer and radiography when clinically indicated 4
• Nutritional assessment and growth monitoring 4
• Neurologic assessment including evaluation of motor function, deep tendon reflexes, and any new focal findings 4, 2
• Adaptive functioning reassessment to ensure supports match changing environmental demands 4

Multidisciplinary Coordination

Establish formal communication protocol between medical providers and school personnel to ensure medical evaluation findings directly inform educational planning 4

• Medical home provider should collaborate with education specialists to present formal medical and developmental evaluations to school personnel 4
• IEP team must include representatives who understand the progressive nature of CMT disease and the complex cognitive profile of neurodevelopmental disorders 1
• Flexibility to modify supports as environmental demands increase is essential to prevent undue stress 4

Special Considerations and Pitfalls

Scoliosis Management

• Close monitoring is essential as scoliosis in CMT patients differs from idiopathic scoliosis, with thoracic hyperkyphosis being common and bracing usually unsuccessful 3
• School accommodations must account for potential need for surgical intervention, which typically involves fusion of 13+ spinal segments 3

Progressive Nature of CMT

• Anticipate increasing motor difficulties as CMT is characterized by progressive distal muscle wasting and weakness 1, 2
• Physical and occupational therapy goals should focus on maximizing functional independence and quality of life while minimizing disability and secondary morbidity 1

Cognitive Decline Risk

• Monitor for declining IQ, especially verbal IQ, which is common in neurodevelopmental disorders and necessitates increased educational supports 4
• Do not assume current functioning will remain stable; proactive planning for increased support needs is warranted 4

Stress and Mental Health

• Implement stress reduction strategies as decreasing stress is important for overall functioning in neurodevelopmental disorders 4
• Monitor for anxiety and depression, which can negatively affect behavior, cognition, and academic performance 4