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Case

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Tim Taylor

on 2 August 2013

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Transcript of Case

Case Study Presentation
Tim Effeney

Service Overview
Health Condition
Agensis of the Corpus Callosum (AgCC)
with associated Colpocephaly

Severe hypoplasia of the vestibulocochlear nerve complex (right > left)
Body Structures / Function
(Impairments)

Profound sensorineural hearing loss (right > left)

Mild to moderate plagiocephaly (left sided)

Mildly increased global extension tone (lower limbs > trunk > upper limbs)

Altered and delayed postural and gross motor function (see activity/participation). Specific deficits / consequences of AgCC not yet known
Activity (Tasks)
Abilities
Participation
Client - 'Amy' (deindentified)
Basic Demographics:
DOB: 21st September 2012
Current Age: 10 months
Sex: Female

Referred to Service:
From Private Paediatrician for ‘Prophylactic assessment and treatment’.

Social History:
First child of family
Parents are married professionals.
Relocated post diagnosis.
Originally from United States.
Background Information
Therapy and Support Service for Children (TASSC)

- Community based Allied Health developmental paediatrics team.
- Ipswich, Queensland.
- Speech Pathology, Occupational Therapy and Physiotherapy
- Co-located with Child Health Nursing, Social Work and linked to nearby Hospital.
Client - 'Amy' (deindentified)
20 Weeks Gestation
Routine Ultrasound
then
Maternal MRI
21 September 2012
Birth
25 October 2012
Cranial Ultrasound

7 December 2012
MRI - Brain

Agensis of the corpus callosum. Colpocephaly
Complete absence of the corpus callosum with associated colpocephaly. Severe hypoplasia of the vestibular cochlear nerve complex bilaterally (especially on the right side where there is no visualization of the temporal segments of the vestibular cochlear nerve).
Audiology Testing
Profound sensori-neural hearing loss in both ears with ongoing middle ear dysfunction on the right side
25 October 2012
12 November 2012
11 December 2012
Agenesis of the Corpus Callosum = AgCC
AgCC is complex and results from a disruption of any of the stages of normal callosal development. Normal development occurs between the 10th and 25th weeks of gestation.

This development can be disrupted by defects in:
•cellular proliferation and migration
•axon growth and guidance
•glial development, and
•patterning at the midline

Agenesis of the Corpus Callosum = AgCC
Disruption could be of genetic, infectious, vascular or toxic causes.

Genetic:
10% of AgCC have chromosomal anomalies,
20-35% have recognisable genetic syndromes

Environmental: Fetal alcohol syndrome (FAS) – disrupts early stages of gliogenesis and glial-neuronal interactions – needed for development of CC.

Post-natal environmental input is also important – visual input in rats, hypothyroidism and musical training!


Largest connective structure in the brain
190million axons
Primarily excitatory role
Heavily involved in premotor and supplementary motor coordination.
Prefrontal Lobe Connections
Premotor and Supplementary Motor Area Connections
Primary Motor Cortex Connections
Sensory Cortex Connections
Parietal Cortex Connections
Temporal Lobe
Connections
Occipital Lobe Connections
Clinical Background Information
Initial understanding came from 'split-brain' - Surgical severing of all cerebral commissures.
Agenesis of the Corpus Callosum = AgCC
Prevalence:

1:4000 live births (including hypogenesis of the CC)

Suggested to occur in 3-5% of individuals assessed for neurodevelopmental disorders


Agenesis of the Corpus Callosum = AgCC
AgCC - Clinical Features described in the literature:
Extremely varied presentation

Deficits in higher-order cognition and social skills

Slower and less accurate performance of bimanual upper limb tasks.

Delayed gross motor milestones

ASD / ADHD


Environmental
Internal
Limitations
Social / Interaction
- good eye follow with head in midline
- vocalising and blowing raspberries
- visually attending to adults and environment
Social / Interaction
- some difficulty rotating head to maintain eye gaze
Upper Limb Function
- reaches and grasps midline toy with symmetrical bimanual limb use
- brings hands and objects to mouth
Upper Limb Function
- reduced use of right arm for right sided reaching tasks
Prone
- midline thoracic and cervical extension to visually attend to objects/persons

Prone
- No development of weight shift control or ability to maintain midline position.
-Persistent and almost immediate activation to roll strongly to the right side

Supine
- positions self well in symmetrical midline
- good flexor activating with chin tuck and lower limb flexion
-pushes into active asymmetrical extension to visually seek object (right > left)

Supine
- rolls to left side only. Can look to the right but doesn't initiate trunk movement
- nil roll to prone

Upright positioning
- can prop briefly on arms in flexed sitting
- takes weight well through lower limbs in supported standing

Upright positioning
- reduced heading righting to gravity (below midline)
- nil active trunk equilibrium reactions to gravity
-exaggerated global extension patterning.

Abilities
Limitations
Visual attention and social interactions.

Effective midline toy play
Independent positioning for play, feeding and social interactions.

Verbal and auditory engagement and learning

External
+

Assistive hearing devices
-


+

Insightful and resourceful parents.
-

Parental anxiety
Day care attendance (due to parents need to return to work)
Minimal extended family support as parents are from overseas.
Overseas Holiday!
•Agenesis vs Hypogenesis vs Malformation
• Very likely to present with other abnormalities, including some cranial abnormalities that only occur with this condition:
Colpocephaly (dilatations of the posterior horns of the lateral ventricles)
Probst bundles (misrouted callosal axons running parallel to the interhemispheric fissure)
Increased ventricle size noted in ultrasound, and a maternal MRI ordered. On MRI, a diagnosis of Agenesis of the Corpus Callosum was indicated.
Birth via lower section ceaserian section (LSCS) at 35 weeks gestation due to reduced fetal growth.
Outcome Measures
Alberta Infant Motor Scale (AIMS)
- <5th percentile

Neuro-Sensory-Motor Developmental Assessment (NSMDA)
- Moderate deviation from normal development.
GAS

Treatment
Impairments
Participation
Activity
EDUCATION
Handling techniques to facilitation flexion and midline positioning
Education and reassurance regarding plagiocephaly + minimisation strategies
Prone modification and practice
Use of gym ball with visual engagement, vibrations and slow weight shifts.
Prone handling techniques
Handling for effective upright positioning, midline bilateral upper limb play
Techniques to maximise visual engagement with parents and environment
Advice regarding liasing with Hearing Australia and MCH Hearing Clinic about concerns regarding hearing aids
Other Services:
Hearing Australia (Therapy Centre)
Mater Children's Hospital (MCH) Hearing Clinic
Private Paediatrician
Day-Care Provider
Future
Role of AgCC versus Vestibulocochlear hypoplasia
Needs may reach beyond scope of TASSC - Early referral.
Likely need for seating system +/- postural support garments
GAS
Personal Learning
Need for formal GAS/Goal setting in a situation when other standardised assessments can only be used as a guide.
Need for better communication between services
Better understanding needed of prenatal family journey.
Affirmation of practice
Sounds familiar but what does it mean?
Prioritised Problem List
1. Social and emotional challenges for the family,

2. Movement and postural control challenges for the client, and

3. Poorly coordinated of multi-service supports.
1. Family (Environment)
1. Child health nursing open plan clinic (co-located) to discuss specific travel needs and ideas,

2.Information regarding a local parental support network for parents of children with increased support needs
3. Service Coordination (Participation + Environment)
1. Improved written and verbal communication channels with other services

2. Organisation of day-care visit and staff training.
2. The Client
(Activity)
1. Persistent Extension Patterning

2. Poor Prone Performance

3. Poor Upright Performance
Extension Patterning
•handling techniques
•targets for downwards gaze and hand/visional engagement with these targets to encourage active flexion
•discussed easy ways to teach other family members how to provide these strategies

Prone Performance
•prone on gym ball with associated vibrational inputs. Also practiced slow ‘rolled’ lateral and anterior-posterior weight-shifts.
•reviewed prone and roll handling and facilitation
Upright Performance
•adapted upright handling to promote independent head control and righting to slow lateral movements.
•supported sitting in ring sit position with attention and engagement with toys around feet.

Hofer, S. & Frahm, J. Topography of the human corpus callosum revisited — comprehensive fiber tractography using diffusion tensor magnetic resonance imaging. Neuroimage 32, 989–994 (2006).
Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nature reviews Neuroscience. 2007 Apr;8(4):287-99. PubMed PMID: 17375041
Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nature reviews Neuroscience. 2007 Apr;8(4):287-99. PubMed PMID: 17375041
Moutard ML, Kieffer V, Feingold J, Kieffer F, Lewin F, Adamsbaum C, et al. Agenesis of corpus callosum: prenatal diagnosis and prognosis. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 2003 Aug;19(7-8):471-6. PubMed PMID: 12845459.
Moes P, Schilmoeller K, Schilmoeller G. Physical, motor, sensory and developmental features associated with agenesis of the corpus callosum. Child: Care, Health & Development. 2009 Sep;35(5):656-72. PubMed PMID: 19320907. English.
Mueller KL, Marion SD, Paul LK, Brown WS. Bimanual motor coordination in agenesis of the corpus callosum. Behavioral neuroscience. 2009 Oct;123(5):1000-11. PubMed PMID: 19824766.

Rine RM, Braswell J, Fisher D, Joyce K, Kalar K, Shaffer M. Improvement of motor development and postural control following intervention in children with sensorineural hearing loss and vestibular impairment. International Journal of Pediatric Otorhinolaryngology. 2004 Sep;68(9):1141-8. PubMed PMID: 15302144. English.
Lobo MAGJC. Enhanced Handling and Positioning in Early Infancy Advances Development Throughout the First Year. Child Development. 2012 07//Jul/Aug2012;83(4):1290-302. PubMed PMID: 77729008.
Questions??
1.Atkinson HL, Nixon-Cave K. A Tool for Clinical Reasoning and Reflection Using the International Classification of Functioning, Disability and Health (ICF) Framework and Patient Management Model. Phys Ther. 2011;91:416-30.
2.International Classification of Functioning, Disability and Health (ICF). Geneva: World Health Organization (WHO); 2001.
3.Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nature reviews Neuroscience. 2007 Apr;8(4):287-99. PubMed PMID: 17375041.
4.Badaruddin DH, Andrews GL, Bolte S, Schilmoeller KJ, Schilmoeller G, Paul LK, et al. Social and behavioral problems of children with agenesis of the corpus callosum. Child Psychiatry Hum Dev. 2007 Dec;38(4):287-302. PubMed PMID: 17564831. English.
5.Goodyear PW, Bannister CM, Russell S, Rimmer S. Outcome in prenatally diagnosed fetal agenesis of the corpus callosum. Fetal Diagn Ther. 2001 May-Jun;16(3):139-45. PubMed PMID: 11316928. English.
6.Moutard ML, Kieffer V, Feingold J, Kieffer F, Lewin F, Adamsbaum C, et al. Agenesis of corpus callosum: prenatal diagnosis and prognosis. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 2003 Aug;19(7-8):471-6. PubMed PMID: 12845459.
7.Moes P, Schilmoeller K, Schilmoeller G. Physical, motor, sensory and developmental features associated with agenesis of the corpus callosum. Child: Care, Health & Development. 2009 Sep;35(5):656-72. PubMed PMID: 19320907. English.
8.Mueller KL, Marion SD, Paul LK, Brown WS. Bimanual motor coordination in agenesis of the corpus callosum. Behavioral neuroscience. 2009 Oct;123(5):1000-11. PubMed PMID: 19824766.
9.Dalvand H, Dehghan L, Bagheri H. Effect of vestibular-proprioceptive stimulations in a child with agenesis of the corpus callosum. Audiol. 2009;18(1-2):98-106.
10.Rine RM, Braswell J, Fisher D, Joyce K, Kalar K, Shaffer M. Improvement of motor development and postural control following intervention in children with sensorineural hearing loss and vestibular impairment. International Journal of Pediatric Otorhinolaryngology. 2004 Sep;68(9):1141-8. PubMed PMID: 15302144. English.
11.Lobo MAGJC. Enhanced Handling and Positioning in Early Infancy Advances Development Throughout the First Year. Child Development. 2012 07//Jul/Aug2012;83(4):1290-302. PubMed PMID: 77729008.
12.Smith LP, Karimi K, Angeli SI. Inner ear dysplasia with agenesis of the corpus callosum. International Journal of Pediatric Otorhinolaryngology. 2006 11//;70(11):1985-8.
13.Kim LS, Jeong SW, Lee YM, Kim JS. Cochlear implantation in children. Auris, nasus, larynx. 2010 Feb;37(1):6-17. PubMed PMID: 19897328.


Unique Situation??
Vestibulo-cochlear hypoplasia + Agenesis of the Corpus Callosum



Smith LP, Karimi K, Angeli SI. Inner ear dysplasia with agenesis of the corpus callosum. International Journal of Pediatric Otorhinolaryngology. 2006 11//;70(11):1985-8.
Rotatory Movement in Space
- high visual awareness of movement

Rotatory Movement in Space
- Nil tonal change to rotation. no post rotational nystagmus noted

+ Progressions
+ Progressions
+ Progressions
Full transcript