case report osteopathic manipulative treatment limits

Case ReportOsteopathic Manipulative Treatment Limits ChronicConstipation in a Child with Pitt-Hopkins Syndrome

Alessandro Aquino12 Mattia Perini2 Silvia Cosmai2 Silvia Zanon2 Viviana Pisa1

Carmine Castagna1 and Stefano Uberti1

1Research Department Istituto Superiore di Osteopatia 20126 Milan Italy2Department of Clinical Paediatrics amp Obstetrics-Gynaecology Istituto Superiore di Osteopatia 20126 Milan Italy

Correspondence should be addressed to Alessandro Aquino alessandroaquinoisoiit

Received 14 November 2016 Accepted 15 January 2017 Published 31 January 2017

Academic Editor Seyed Mohsen Dehghani

Copyright copy 2017 Alessandro Aquino et al This is an open access article distributed under the Creative Commons AttributionLicense which permits unrestricted use distribution and reproduction in any medium provided the original work is properlycited

Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene Children with PTHStypically present with gastrointestinal disorders and early severe chronic constipation is frequently found (75) Here we describethe case of a PTHS male 10-year-old patient with chronic constipation in whom Osteopathic Manipulative Treatment (OMT)resulted in improved bowel functions as assessed by the diary the QPGS-Form A Section C questionnaire and the PaediatricBristol Stool Form Scale The authors suggested that OMT may be a valid tool to improve the defecation frequency and reduceenema administration in PTHS patients

1 Introduction

Pitt-Hopkins Syndrome (PTHS) is a rare genetic disordercharacterized by developmental delay (mental retardation)wide mouth distinctive facial features and intermittenthyperventilation followed by apnea [1] The genetic aetiol-ogy of PTHS is associated with haploinsufficiency of theTranscription factor 4 (TCF4) located on the chromosome 18(18q212) The genetic cause of this disorder was describedfor the first time in 2007 [1ndash4] and the overall prevalenceof PTHS is unknown Rosenfeld et al estimated that thepopulation frequency of PTHS due to 18q21 microdeletion is134000ndash141000The prevalence of PTHS is however clearlyunderestimated as many cases are caused by sporadic pointmutations [3ndash5]

Children with PTHS typically present with gastrointesti-nal disease particularly constipation is common (75) andoften severe Only few PTHS patients have comorbidity forHirschsprungrsquos disease (HSCR) characterized by the absenceof enteric ganglia along a variable bowel length (congenitalaganglionic megacolon) [1] In most cases the actual molec-ular reasons underlying the gastrointestinal features are not

identified even if velocities of the upper gastrointestinal anddistal colon transit were impaired in an experimental modelof the disease suggesting that defective regulation by theenteric nervous system (ENS) might be associated with thegenetic defect [6] The regular use of high-fiber diet andorlaxative regimen is recommended [7] The benefit associatedwith the use of fibers such as dietary intervention in childrenwho suffer from constipation has been demonstrated by twowell-designed studies [8 9] The North American Societyfor Paediatric Gastroenterology Hepatology and Nutrition(NASPGHAN) committee advised osmotic laxatives magne-sium hydroxide lactulose lubricant laxative mineral oil andSenna [10]

Behavioural modification is an important componentof therapy particularly for children with constipation andencopresis It involves regular toilet sitting for someminutes aday after meals combined with a reward system and positivereinforcement from parents [11] The rarity of PTHS makes itdifficult to assess the effects of these approaches In particularautistic behaviours and mental retardation which are typicalfeatures of the disease might restrict the efficacy of theseapproaches

Hindawi Publishing CorporationCase Reports in PediatricsVolume 2017 Article ID 5437830 5 pageshttpsdoiorg10115520175437830

2 Case Reports in Pediatrics

Previous studies showed the effectiveness of manualtherapies specially osteopathic treatment in constipation[12ndash15] Osteopathic manipulative therapy a form of physicalmanipulation of the body for improvement of the health andbody function has been designated as complementary andalternative medicine (CAM) by the National Institutes ofHealth (NIH) Osteopathic practitioners use a wide varietyof therapeutic manual techniques to improve physiologicalfunction andor support homeostasis that has been altered bysomatic (body framework) dysfunctions that is an impairedor altered function of related components of the somaticsystem including skeletal arthrodial visceral and myofascialstructures and related vascular lymphatic and neural ele-ments [16 17]

In this article we reported the case of a PTHS patient withchronic constipation whose bowel functions were improvedby Osteopathic Manipulative Treatment (OMT)

2 Report of Case

The patient was a Caucasian 10-year-old child with a diag-nosis of PTHS genetically confirmed in 2011 The child wasborn at 38th week (eutocic labour) with a birth weight of3620KgThe Apgar score was 10 at one and five minutes Nofetal complications during the pregnancy were observed andthe growth was regular throughout the entire period At birththe child was apparently healthy

The mother was 44 years old white Caucasian at hersecond pregnancy nonsmoker nonalcoholic and with nohistory of geneticcongenital disorders She used no drugsduring pregnancy The father was 54 years old and whiteCaucasian and had no geneticcongenital disorders Thesister 16 years old was born by eutocic delivery and withoutperinatal problems with no geneticcongenital disordersThere is no family history of genetic disorders

The mother reported that constipation had been presentfor 6 years The bowel movement frequency varied from 1 to2 times a week The child did not seem to have pain duringevacuation or in the days between evacuations The motheralways used an enema and abdomen and perineal massagefor stimulating child evacuationThe regular use of high-fiberdiet andor laxative regimens were not effective

The child had its first paediatric osteopathic visit at theCentro diMedicinaOsteopatica (Milan)when hewas 10 yearsold Several features of the disease were present myopia in hisleft eye (65 dioptres) with use of corrective lenses strabismus(occlusion bandage 2 hoursday) and dimorphisms (singlepalmar crease small penis and hypospadias and V fingerclinodactyly) He had severe bilateral foot hypotonia withplanovalgus foot (orthosis) locked knee dislocated hips andmoderate scoliosis He presentedwith PTHS distinctive facialfeatures episodic hyperventilation andor breath-holdingwhile awake The patient had severe intellectual disabilityconfirmed by child neurologist Behavioural features com-prise happy disposition stereotypic head and hand move-ments sleep disorders self-aggression and anxiety He didnot present seizures but the EEG showed slow theta bandswith epileptogenic signs in his temporal regions The patientused no antiepileptic drugs Moreover the patient showed

motor development delay and no verbal communicationNo surgical history previous medical treatments besideslaxatives or allergies were documented The child has neverbeen subjected to colonoscopy or the histologic examinationof the rectal tissue

The child has moderate to severe cognitive delay and anundifferentiated approach to objects (beat crush) Affectiveand relational context presents a slightly modulated expres-sion Communication is limited to very few and limitedunderstanding required rituals Organization of space andtime and attention are very poor with primary autonomiesnot achieved The mother has not changed evacuative habits(time and frequency toilet) during the study The childunderwent physiotherapy and swimming once a week andpsychomotor activity twice a week and continued with theseactivities throughout the duration of the study

3 Physical and Osteopathic Evaluation

The patient was alert and oriented and did not appear indistress upon examination Weight was 30Kg and height was130 cm Vital signs included blood pressure 110ndash75mmHgheart rate 70 bpm and respiratory rate 15 apmThe abdomenwas not tender No hepatosplenomegaly was found

The osteopathic evaluation was performed by two osteo-pathic practitioners with more than 5 years of paediatricclinical experience The osteopathic structural examinationshowed bilateral hypertonia of the hamstring and paraspinalmuscles severe ankle muscle hypotonia fascial diaphragmrestriction anterior right-rotated iliac bone right-rotatedsacrum left sacroiliac (SI) joint hypomobility overloadedbreathing accessory muscles and lower chest stiffness Thespecific segmental diagnosis was not possible due to lack ofpatient compliance

4 Osteopathic Manipulative Treatment andDaily Parallel Plan

The patient underwent 6 weekly OMT sessions (sessionlength 301015840) During the first two sessions myofascial-releasetreatment (MFR) was applied to the abdomen region forabdominal bloating and strain-counterstrain techniqueswere applied to the ileocaecal valve and gastroduodenal junc-tion Furthermore manipulation of the (ascending trans-verse and descending) colon and mesenteric lift were usedto improve colon function as suggested by Brugman et al[12] Additionally MFR soft-tissue (ST) and articulatorytreatment (ART) were used on the pelvic lumbar and dorsalspine relying mostly on passive mobilization techniques forthe thoracolumbar trait

In the following sessions a diaphragmatic approach wasused to treat the thoracic and pelvic diaphragms Specificneurofascial techniques (rib-raising and suboccipital release)were used

OMT was consistently well tolerated and adverse effectswere not identified High-fiber and fruits diet fixed timefor evacuations (eg 8 pm) massage and stimulation of hisabdomen and perineal area were not modified throughoutthe treatment

Case Reports in Pediatrics 3

Weeks

Mea

n ev

ents

0 10 15 200

1

2

3

4

5PRE-T FU1 FU2

Enema administrationDefecation

5

T

Figure 1 Frequency of defecations and enema administrations perweek during the study PRE-T 3 pretreatment weeks T 6 treatmentweeks FU1 5 follow-up weeks FU2 10 follow-up weeks

5 Measurement Tools

During this study three different measurement tools wereused

(i) A constipation diary (date hour effort urgency useof laxative andor enema)

(ii) QPGS-Form A Section C questionnaire [18](iii) Bristol Stool Form Scale (paediatric score) [19]

These tools were administered to the mother to monitor theconstipation in the 3 weeks before the first treatment duringthe treatment period and during the two follow-up periodsboth of 5 weeks

6 Bowel Movement Frequency andEnema Administration Frequency

Throughout the 3 weeks before the first treatment thedefecation frequency was 10 plusmn 00 per week with a strictassociation with the enema administration During the 6-week treatment themean number of defecations was 25plusmn08per week and enema administration was reduced to 1 plusmn 13per week During the follow-up period the mean evacuationnumber reached initially 32 plusmn 04 per week and enemaadministration frequency was reduced to 02 plusmn 04 (specifythe length of the early follow-up period) Later on the meanevacuation number reached 34plusmn05 per week and no enemawas administrated (Figure 1)

7 QPGS-Form A Section C Questionnaire andBristol Stool ScalendashPaediatric

The Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III Version (QPGS-RIII) is an adaptation and abbre-viation of the Questionnaire on Pediatric GastrointestinalSymptoms (QPGS) that was developed with the support ofa grant from the Rome Foundation and that has undergonepreliminary validation [18] The original QPGS assesses the

Rome II symptom criteria for paediatric functional gastroin-testinal disorders and additional gastrointestinal symptomsThe parent-report version of the QPGS-RIII is suitable foruse by parents of children four years of age and olderThe questionnaire uses 5-point scales to measure frequencyseverity and duration of symptoms In addition it may bescored to assess whether a patient meets the criteria for eachof the individual functional gastrointestinal disorders TheQPGS-RIII cannot substitute for the medical evaluation andclinical judgment required for an accurate diagnosis

The results by a descriptive analysis using the QPGS-Form A Section C questionnaire revealed that items 3 1112 19 and 20 were modified after the OMT treatment Indetail weekly defecation frequency (from 1-2 timesweek to3ndash6 timesweek) was improved (item 3) Strain was reduced(from ldquoalwaysrdquo to ldquosometimesrdquo item 11) mucus duringevacuation was reduced (from ldquosometimesrdquo to ldquoneverrdquo item12) Evacuation occurred during the night (item 19 from ldquonordquoto ldquoyesrdquo) and complete faecal continence was achieved (item20) The colonic transit time as assessed by the Bristol StoolScalendashPaediatric was not modified

8 Discussion

The etiology of constipation in Pitt-Hopkins Syndrome isunknownThus dietary indications (eg fibers) and constantuse of laxatives and stool softeners are used to handle con-stipation [12ndash15 18ndash20] Not surprisingly this approach oftenis not effective [21 22]

Recent evidence suggests that neurological disordersinvolve a part of the Autonomic Nervous System (ANS)namely the ENS [23 24] The ENS influences the CentralNervous System (CNS) and vice versa [25 26]The interplaybetween the two systems is pivotal for the proper bowelfunctions including the bowelmotility secretionabsorptionand local blood flow [25 27] This is supported by theconsideration that the 90 of vagal fibers are afferent inthe gut-brain axis [28] A role of the ENS in neurologicaldisorders as a trigger or a player has been advocated [23]The pathophysiological processes that underlie CNS diseaseoften have enteric manifestations [25] In a recent study ona murine model of PTHS the authors provided the firstevidence that TCF4 haploinsufficient mice had a reducedupper gastrointestinal and distal colonic transit velocities [6]TCF4 is expressed in both glial cells and neurons of theCNS [29] and the differentiation and migration of a subset ofneuronal progenitors might be influenced [30] This suggeststhat TCF4 expression during the formation of ENS might berequired for effective bowel motility [2]

Based on the hypothesis that the genetic defect couldcause a specific defect in the regulation of the ENS actionwe used OMT to restore the ANS balance the visceralmobility and respiratory function and the improvementof venous and lymphatic circulatory systems In particularwe focused on both parasympathetic and sympathetic ANScomponents considering that the hyperactivity of ANS leadsto decreased peristalsis as well as increased sphincter tone[24] To influence the Parasympathetic Nervous System(PNS) function we acted on the vagus nerve by treating


the cranial and upper cervical spine We acted on the II-III and IV sacral roots by approaching the sacrum theinnominate and pelvic floor thus balancing the external analsphincter tone [24] The T6ndashT12 tract that is correlated withthe upper gastrointestinal function and the T12ndashL2 tract thatis correlated with the left half of the colon were manipulatedby using MFR ST and ART This approach solved the seg-mental somatic dysfunctions maybe reducing indirectly alsothe sympathetic response via paraspinal muscle inhibition[24]

Furthermore Spinal Manipulation (SM) could have hada twofold effect acting on (i) the skeletal muscle hypertoniavia the efferent projection from the CNS (ii) the entericsympathetic and parasympathetic systems via the afferentfibers located in dorsal root or cranial nerve ganglia [24]Therib-raising technique was carried out in order to decrease thesympathetic ANS activity [31]

Similarly to what has been described in the experimentalmodel of the disease [6] we observed fascial tension in theupper gastrointestinal and distal colonic traits The visceralapproach was aimed to reduce the fascial restriction Inparticular we applied a specific technique to the ileocaecalvalve and gastroduodenal junctionThe colon andmesentericroot were manipulated by a lift technique The visceralapproach may have improved constipation by presumablyincreasing the organ mobility [32] positively changing theperipheral neuroplasticity [33] and implementing the com-munication between the brain and gut MFR and STM onthe thoracic spine and ribcage together with the treatmentof the thoracic diaphragm could have improved the bloodand lymphatic bowel vasculature [34] Also the approach onthe diaphragm might act on the colonic flexures and intra-abdominal pressures [12 34]The lymphatic pump treatmentmight have reduced the enteric inflammation possible inPTHS patients due to altered WNTb-cateninTCF pathway[34 35]

So far there are no specific case reports or studies onthe use of OMT in PTHS patients with chronic constipationThe pilot studies and case studies [12 14] that studied specificsyndromes did not deal with this disorder The use of aconstipation diary allowed a thorough analysis of changes inthe weekly frequency of evacuation

Limitation of the study includes the limited collaborationof the patient that restricted the possibility of relying on aproper technique procedure and the lack of information onthe histological features of the gut mucosa

The PTHS is an extremely rare syndrome and multi-disciplinary reference centers are lacking Even if clinicalexperience is limited we feel that results are promising sug-gesting that OMTmay be beneficial for children affected andsuffering from constipation

The standard medical therapy appears in children to havelimited efficacy effect in the medium and long term andhas substantial potential side effects [36] In contrast OMTcould represent a long-term effective noninvasive and well-tolerated therapy

Constipation is a common disorder in several neurologi-cal disorders possibly as a consequence of the interrelation-ship between CNS and ENS [23] OMTmight also have a role

in other neurological disorders Further studies are necessaryto verify this hypothesis

9 Conclusions

To our knowledge this is the first case report that describesthe effects of OMT on severe chronic constipation in a PTHSpaediatric patient OMT can be a valid tool to improve thedefecation frequency and reduce enema administration thusimproving the quality of life of the PTHS paediatric patientsand of their families

Consent

Informed consent was obtained from the parents

Competing Interests

The authors declare no conflict of interests

Acknowledgments

Dr Francesco Cerritelli and Professor Patrizia RovereQuerini are acknowledged for critical reading of the manu-script andDr HeleenKeizer andDr Elena Cerasetti for revis-ing the language andDr Annamaria Staiano is acknowledgedfor providing us the QPGS-Form A Rome III questionnaireand the patientrsquos parents are acknowledged for their collabo-ration

References

[1] C Zweier M M Peippo J Hoyer et al ldquoHaploinsufficiency ofTCF4 causes syndromal mental retardation with intermittenthyperventilation (Pitt-Hopkins syndrome)rdquo American Journalof Human Genetics vol 80 no 5 pp 994ndash1001 2007

[2] J Amiel M Rio L De Pontual et al ldquoMutations in TCF4encoding a class I basic helix-loop-helix transcription factorare responsible for Pitt-Hopkins syndrome a severe epilepticencephalopathy associatedwith autonomic dysfunctionrdquoAmer-ican Journal ofHumanGenetics vol 80 no 5 pp 988ndash993 2007

[3] J D Sweatt ldquoPitt-Hopkins Syndrome intellectual disability dueto loss of TCF4-regulated gene transcriptionrdquo Experimental andMolecular Medicine vol 45 no 5 article no e21 2013

[4] M Peippo and J Ignatius ldquoPitt-Hopkins syndromerdquoMolecularSyndromology vol 2 no 3ndash5 pp 171ndash180 2012

[5] J A Rosenfeld K Leppig B C Ballif et al ldquoGenotype-pheno-type analysis of TCF4 mutations causing Pitt-Hopkins syn-drome shows increased seizure activity with missense muta-tionsrdquo Genetics in Medicine vol 11 no 11 pp 797ndash805 2009

[6] V Grubisic A J Kennedy J D Sweatt and V Parpura ldquoPitt-Hopkins mouse model has altered particular gastrointestinaltransits in vivordquoAutismResearch vol 8 no 5 pp 629ndash633 2015

[7] A Staiano D Simeone E Del Giudice E Miele A Tozzi andC Toraldo ldquoEffect of the dietary fiber glucomannan on chronicconstipation in neurologically impaired childrenrdquo Journal ofPediatrics vol 136 no 1 pp 41ndash45 2000

[8] V Loening-Baucke EMiele and A Staiano ldquoFiber (glucoman-nan) is beneficial in the treatment of childhood constipationrdquoPediatrics vol 113 no 3 pp e259ndashe264 2004


[9] J S Hyams W R Treem N L Etienne et al ldquoEffect of infantformula on stool characteristics of young infantsrdquo Pediatricsvol 95 no 1 pp 50ndash54 1995

[10] S S Baker G S Liptak R B Colletti et al ldquoConstipationin infants and children evaluation and treatmentrdquo Journal ofPediatric Gastroenterology and Nutrition vol 29 no 5 pp 612ndash626 1999

[11] R Van Ginkel J B Reitsma H A Buller M P Van Wijk J AJ M Taminiau and M A Benninga ldquoChildhood constipationlongitudinal follow-up beyond pubertyrdquo Gastroenterology vol125 no 2 pp 357ndash363 2003

[12] R Brugman K Fitzgerald and G Fryer ldquoThe effect of osteo-pathic treatment on chronic constipationmdasha pilot studyrdquo Inter-national Journal of OsteopathicMedicine vol 13 no 1 pp 17ndash232010

[13] A Cohen-Lewe ldquoOsteopathic manipulative treatment for co-lonic inertiardquoThe Journal of the American Osteopathic Associa-tion vol 113 no 6 p 449 2013

[14] T Tarsuslu H Bol I E Simsek I E Toylan and S Cam ldquoTheeffects of osteopathic treatment on constipation in childrenwith cerebral palsy a pilot studyrdquo Journal of Manipulative andPhysiological Therapeutics vol 32 no 8 pp 648ndash653 2009

[15] D M Quist and S M Duray ldquoResolution of symptoms ofchronic constipation in an 8-year-old male after chiropractictreatmentrdquo Journal of Manipulative and PhysiologicalTherapeu-tics vol 30 no 1 pp 65ndash68 2007

[16] World Health Organization Benchmarks for Training in Tra-ditionalComplementary and Alternative Medicine Benchmarksfor Training in OsteopathyWorldHealthOrganization GenevaSwitzerland 2010

[17] American Association of Colleges of Osteopathic Medicine(AACOM) ldquoGlossary of Osteopathic Terminologyrdquo httpwwwaacomorgnews-and-eventspublicationsglossary-of-oste-opathic-terminology

[18] R Buonavolonta G Boccia R Turco P Quitadamo D Russoand A Staiano ldquoPediatric functional gastrointestinal disordersa questionnaire on pediatric gastrointestinal symptoms basedon Rome III criteriardquoMinerva Pediatrica vol 61 no 1 pp 67ndash91 2009

[19] B P Chumpitazi M M Lane D I Czyzewski E M WeidlerP R Swank and R J Shulman ldquoCreation and initial evaluationof a stool form scale for childrenrdquo Journal of Pediatrics vol 157no 4 pp 594ndash597 2010

[20] L R Schiller ldquoReview article the therapy of constipationrdquoAlimentary Pharmacology and Therapeutics vol 15 no 6 pp749ndash763 2001

[21] G F LongstrethW GThompsonW D Chey L A HoughtonF Mearin and R C Spiller ldquoFunctional Bowel DisordersrdquoGastroenterology vol 130 no 5 pp 1480ndash1491 2006

[22] S Muller-Lissner J Tack Y Feng F Schenck and R SpechtGryp ldquoLevels of satisfaction with current chronic constipationtreatment options in Europemdashan internet surveyrdquo AlimentaryPharmacology andTherapeutics vol 37 no 1 pp 137ndash145 2013

[23] M Rao andM D Gershon ldquoThe bowel and beyond the entericnervous system in neurological disordersrdquo Nature ReviewsGastroenterology amp Hepatology vol 13 no 9 pp 517ndash528 2016

[24] K E Nelson and A L Habenicht ldquoThe patient with gastroin-testinal problemsrdquo in SomaticDysfunction inOsteopathic FamilyMedicine K E Nelson Ed pp 291ndash303 Lippincott Williams ampWilkins Baltimore Md USA 2007

[25] J B Furness B P Callaghan L R Rivera and H-J Cho ldquoTheenteric nervous system and gastrointestinal innervation inte-grated local and central controlrdquo Advances in ExperimentalMedicine and Biology vol 817 pp 39ndash71 2014

[26] M D Gershon ldquoDevelopmental determinants of the indepen-dence and complexity of the enteric nervous systemrdquo Trends inNeurosciences vol 33 no 10 pp 446ndash456 2010

[27] J B Furness The Enteric Nervous System Wiley-BlackwellMalden Mass USA 2003

[28] M Beyak D C E Bulmer W Jiang C Keating W Rong andD Grundy ldquoExtrinsic sensory afferent nerves innervating thegastrointestinal tractrdquo inPhysiology of the Gastrointestinal TractL R Johnson K E Barrett F K Ghishan J L Merchant HM Said and J D Wood Eds pp 685ndash725 Elsevier AcademicPress New York NY USA 2006

[29] H Fu J Cai H Clevers et al ldquoA genome-wide screen forspatially restricted expression patterns identifies transcriptionfactors that regulate glial developmentrdquo The Journal of Neuro-science vol 29 no 36 pp 11399ndash11408 2009

[30] A Flora J J Garcia C Thaller and H Y Zoghbi ldquoThe E-protein Tcf4 interacts with Math1 to regulate differentiation ofa specific subset of neuronal progenitorsrdquo Proceedings of theNational Academy of Sciences of the United States of Americavol 104 no 39 pp 15382ndash15387 2007

[31] A T Henderson J F Fisher J Blair C Shea T S Li and KG Bridges ldquoEffects of rib raising on the autonomic nervoussystem a pilot study using noninvasive biomarkersrdquo Journal ofthe American Osteopathic Association vol 110 no 6 pp 324ndash330 2010

[32] J P Barral and PMercier ldquoThe colonrdquo inVisceralManipulationpp 122ndash138 Eastland Press Seattle Wash USA 1988

[33] N Vergnolle ldquoPostinflammatory visceral sensitivity and painmechanismsrdquoNeurogastroenterology and Motility vol 20 no 1pp 73ndash80 2008

[34] P Pelosi M Quintel andM L N G Malbrain ldquoEffect of intra-abdominal pressure on respiratory mechanicsrdquo Acta ClinicaBelgica vol 62 supplement 1 pp 78ndash88 2007

[35] L De Pontual Y Mathieu C Golzio et al ldquoMutational func-tional and expression studies of the TCF4 gene in pitt-hopkinssyndromerdquoHuman Mutation vol 30 no 4 pp 669ndash676 2009

[36] D S Pashankar ldquoChildhood constipation evaluation andman-agementrdquo Clinics in Colon and Rectal Surgery vol 18 no 2 pp120ndash127 2005

Submit your manuscripts athttpswwwhindawicom

Stem CellsInternational

Hindawi Publishing Corporationhttpwwwhindawicom Volume 2014


MEDIATORSINFLAMMATION

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Behavioural Neurology

EndocrinologyInternational Journal of



Disease Markers


BioMed Research International

OncologyJournal of



Oxidative Medicine and Cellular Longevity


PPAR Research

The Scientific World JournalHindawi Publishing Corporation httpwwwhindawicom Volume 2014

Immunology ResearchHindawi Publishing Corporationhttpwwwhindawicom Volume 2014

Journal of

ObesityJournal of



Computational and Mathematical Methods in Medicine

OphthalmologyJournal of


Diabetes ResearchJournal of



Research and TreatmentAIDS


Gastroenterology Research and Practice


Parkinsonrsquos Disease

Evidence-Based Complementary and Alternative Medicine

Volume 2014Hindawi Publishing Corporationhttpwwwhindawicom


Previous studies showed the effectiveness of manualtherapies specially osteopathic treatment in constipation[12ndash15] Osteopathic manipulative therapy a form of physicalmanipulation of the body for improvement of the health andbody function has been designated as complementary andalternative medicine (CAM) by the National Institutes ofHealth (NIH) Osteopathic practitioners use a wide varietyof therapeutic manual techniques to improve physiologicalfunction andor support homeostasis that has been altered bysomatic (body framework) dysfunctions that is an impairedor altered function of related components of the somaticsystem including skeletal arthrodial visceral and myofascialstructures and related vascular lymphatic and neural ele-ments [16 17]

In this article we reported the case of a PTHS patient withchronic constipation whose bowel functions were improvedby Osteopathic Manipulative Treatment (OMT)

2 Report of Case

The patient was a Caucasian 10-year-old child with a diag-nosis of PTHS genetically confirmed in 2011 The child wasborn at 38th week (eutocic labour) with a birth weight of3620KgThe Apgar score was 10 at one and five minutes Nofetal complications during the pregnancy were observed andthe growth was regular throughout the entire period At birththe child was apparently healthy

The mother was 44 years old white Caucasian at hersecond pregnancy nonsmoker nonalcoholic and with nohistory of geneticcongenital disorders She used no drugsduring pregnancy The father was 54 years old and whiteCaucasian and had no geneticcongenital disorders Thesister 16 years old was born by eutocic delivery and withoutperinatal problems with no geneticcongenital disordersThere is no family history of genetic disorders

The mother reported that constipation had been presentfor 6 years The bowel movement frequency varied from 1 to2 times a week The child did not seem to have pain duringevacuation or in the days between evacuations The motheralways used an enema and abdomen and perineal massagefor stimulating child evacuationThe regular use of high-fiberdiet andor laxative regimens were not effective

The child had its first paediatric osteopathic visit at theCentro diMedicinaOsteopatica (Milan)when hewas 10 yearsold Several features of the disease were present myopia in hisleft eye (65 dioptres) with use of corrective lenses strabismus(occlusion bandage 2 hoursday) and dimorphisms (singlepalmar crease small penis and hypospadias and V fingerclinodactyly) He had severe bilateral foot hypotonia withplanovalgus foot (orthosis) locked knee dislocated hips andmoderate scoliosis He presentedwith PTHS distinctive facialfeatures episodic hyperventilation andor breath-holdingwhile awake The patient had severe intellectual disabilityconfirmed by child neurologist Behavioural features com-prise happy disposition stereotypic head and hand move-ments sleep disorders self-aggression and anxiety He didnot present seizures but the EEG showed slow theta bandswith epileptogenic signs in his temporal regions The patientused no antiepileptic drugs Moreover the patient showed

motor development delay and no verbal communicationNo surgical history previous medical treatments besideslaxatives or allergies were documented The child has neverbeen subjected to colonoscopy or the histologic examinationof the rectal tissue

The child has moderate to severe cognitive delay and anundifferentiated approach to objects (beat crush) Affectiveand relational context presents a slightly modulated expres-sion Communication is limited to very few and limitedunderstanding required rituals Organization of space andtime and attention are very poor with primary autonomiesnot achieved The mother has not changed evacuative habits(time and frequency toilet) during the study The childunderwent physiotherapy and swimming once a week andpsychomotor activity twice a week and continued with theseactivities throughout the duration of the study

3 Physical and Osteopathic Evaluation

The patient was alert and oriented and did not appear indistress upon examination Weight was 30Kg and height was130 cm Vital signs included blood pressure 110ndash75mmHgheart rate 70 bpm and respiratory rate 15 apmThe abdomenwas not tender No hepatosplenomegaly was found

The osteopathic evaluation was performed by two osteo-pathic practitioners with more than 5 years of paediatricclinical experience The osteopathic structural examinationshowed bilateral hypertonia of the hamstring and paraspinalmuscles severe ankle muscle hypotonia fascial diaphragmrestriction anterior right-rotated iliac bone right-rotatedsacrum left sacroiliac (SI) joint hypomobility overloadedbreathing accessory muscles and lower chest stiffness Thespecific segmental diagnosis was not possible due to lack ofpatient compliance

4 Osteopathic Manipulative Treatment andDaily Parallel Plan

The patient underwent 6 weekly OMT sessions (sessionlength 301015840) During the first two sessions myofascial-releasetreatment (MFR) was applied to the abdomen region forabdominal bloating and strain-counterstrain techniqueswere applied to the ileocaecal valve and gastroduodenal junc-tion Furthermore manipulation of the (ascending trans-verse and descending) colon and mesenteric lift were usedto improve colon function as suggested by Brugman et al[12] Additionally MFR soft-tissue (ST) and articulatorytreatment (ART) were used on the pelvic lumbar and dorsalspine relying mostly on passive mobilization techniques forthe thoracolumbar trait

In the following sessions a diaphragmatic approach wasused to treat the thoracic and pelvic diaphragms Specificneurofascial techniques (rib-raising and suboccipital release)were used

OMT was consistently well tolerated and adverse effectswere not identified High-fiber and fruits diet fixed timefor evacuations (eg 8 pm) massage and stimulation of hisabdomen and perineal area were not modified throughoutthe treatment


Weeks

Mea

n ev

ents

0 10 15 200

1

2

3

4

5PRE-T FU1 FU2


5

T


5 Measurement Tools











8 Discussion














9 Conclusions


Consent


Competing Interests


Acknowledgments


References











































of






Disease Markers



OncologyJournal of





PPAR Research



Journal of

ObesityJournal of

















Weeks

Mea

n ev

ents

0 10 15 200

1

2

3

4

5PRE-T FU1 FU2


5

T


5 Measurement Tools











8 Discussion














9 Conclusions


Consent


Competing Interests


Acknowledgments


References











































of






Disease Markers



OncologyJournal of





PPAR Research



Journal of

ObesityJournal of


























9 Conclusions


Consent


Competing Interests


Acknowledgments


References











































of






Disease Markers



OncologyJournal of





PPAR Research



Journal of

ObesityJournal of


















































of






Disease Markers



OncologyJournal of





PPAR Research



Journal of

ObesityJournal of
















case report osteopathic manipulative treatment limits

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