Document Details Investigation of Global Developmental Delay
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1 Title Trust Ref No Local Ref (optional) Main points the document covers Who is the document aimed at? Author Approved by (Committee/Director) Approval Date 14/9/2015 Initial Equality Impact Screening Full Equality Impact Assessment Lead Director Category Sub Category Document Details Investigation of Global Developmental Delay Guidance on investigations of a child presenting with global developmental delay Community Paediatricians, Paediatric trainees Dr Shachi Buch, Consultant Community Paediatrician Approval process Clinical Policies Group Yes Director of Nursing & Operations Clinical Review date 14/9/2018 Who the policy will be distributed to Method Document Links Required by CQC Required by NHLSA Other No Date Amendment 1 V1 May st Draft 2 3 Distribution Community Paediatricians and Paediatric trainees Electronically via managers / Datix, available to all staff via Trust Website and Key clinicians Amendments History Investigation of Global Developmental Delay Sept 15 1
2 C O N T E N T S 1. Introduction Purpose Definitions / Glossary Duties Chief Executive Director of Nursing & Medical Director Service Managers All Clinical Staff Investigations of Global Developmental Delay Which children need investigation History and examination Medical Investigations First line of Investigation Second line of Investigation Inherited metabolic diseases and tests for Specific Clinical Features... 6/7 7. Consultation Dissemination & Implementation Monitoring Compliance References Associated Documents... 8 Investigation of Global Developmental Delay Sept 15 2
3 1. Introduction The prevalence of developmental disabilities is approximately 5-10% in the childhood population. Children who present with global or severe developmental delay need investigations to try and find an underlying cause for their difficulties. Global developmental delay is described as occurring when there is significant delay in two or more developmental domains. Investigation planning is a clinical decision that is aided, but should not be dictated by protocols. 2. Purpose The purpose of this guideline is to provide a standardised and consistent approach to the medical investigation of children with global developmental delay for Shropshire County in order that any child with global developmental delay receives appropriate medical investigations in a timely manner to in order to make the correct diagnosis. This guideline applies to all medical and clinical professionals who are routinely involved in detection / screening and the diagnosis of children with global developmental delay. 1. Definitions / Glossary AFLP Alfa-fetoprotein APH Ante-Partum Haemorrhage Ca Calcium CK Creatinine Kinase CSF Cerebro-Spinal Fluid CT Computerised Tomography EEG Electro Encephalogram ERG Electroretinogram FBC Full blood count FHx Family history GAGS HC Head Circumference HELLP Haemolytic Anaemia Elevated Liver Function HIE Hypoxic Ischaemic Encephalopathy Hx History LFT Liver Function Test MDT Multi-Disciplinary Team MRI Magnetic Resonance Image SCHT Shropshire Community Health Trust TSH Thyroid Stimulating Hormone T4 Free Thyroxin U&E Urea and Electrolytes USG Ultra Sonography VEP Visual evoked potentials < Less than 4. Duties 4.1 Chief Executive The Chief Executive has ultimate accountability for the strategic and operational management of the Trust, including ensuring there are effective and appropriate processes in place for the medical investigation of children with global developmental delay. Investigation of Global Developmental Delay Sept 15 3
4 4.2 Director of Nursing & Medical Director The Director of Nursing & Medical Director have responsibility for ensuring that children with global developmental delay are offered appropriate medical investigations as required to support patient safety at all times Service Managers Service Managers are responsible for the day to day operational management and coordination of the medical investigation of children with global developmental delay in line with the clinical guideline. 4.4 All Clinical Staff Clinical and medical staff are key essential members in ensuring that children with global developmental delay are offered medical investigations appropriately as per national / local guidelines. All clinical and medical staff is required to comply with this guideline and to report any adverse care related issues to their line manager and to complete a Datix incident report in line with the Trust s Incident reporting policy. 5. Investigation of Global Developmental Delay Investigations should be planned after eliciting a detailed history, severity of developmental difficulties and examination of the child. 5.1 Which children need investigation? 1. Severe delay: Development <50% of expected milestones at that chronological age 2. Global delay: Significant delay affecting 2 or more domains of development 3. Any plateauing or regression of development 5.2 History and Examination: In the history there may be several important features to suggest global delay. The past medical history of the developmentally delayed child should be questioned in detail. The presence of one or more of the following are significant factors which should be enquired for systematically during history taking Social History Consanguinity Previous miscarriages FHx of developmental delay/learning difficulties Unexplained sibling death Severe unexplained episodic illness/acute life threatening events Prenatal Hx Perinatal Hx Postnatal Hx Intrauterine infections Teratogens Maternal HELLP/AFLP Significant APH Foetal movements HIE Birth Trauma Meningitis Trauma Infection Abnormal cranial USG Investigation of Global Developmental Delay Sept 15 4
5 6. Medical Investigations Investigations should be planned in a systematic manner depending on the history and clinical findings. 6.1 First Line investigations No specific clinical findings These investigations are planned when significant delay is identified, but there are no specific clinical features/examination findings. 1 st line investigations-no specific clinical findings CK FBC U&E s, LFT, Ca TSH, Free T4 Ferritin Lactate Ammonia Urate Amino acids Chromosomes(micro-array analysis) Fragile X -Amino/ organic acids, GAGS, urate Creatine(males) 6.2 Second Line Investigations These are instigated when there are specific factors identified in the history, or there are abnormal neurological presentations. Medical Investigations for children with global developmental delay 2 ND LINE INVESTIGATIONS NEUROIMAGING Abnormal HC Seizures Focal neurology Previous abnormalities Consider in individual cases (MRI / CT for calcification) Consider referrals:- EEG Seizures Speech Regression Neurodegeneration Consider 24 hour EEG GENETICS Dysmorphism Abnormal Growth Sensory problems Odd behaviour Family History Audiology, Neurology, Genetics Ophthalmology, Electroretinogram (ERG) / Visual Evoked Potentials(VEP) Investigation of Global Developmental Delay Sept 15 5
6 6.3 Inherited Metabolic Diseases and Tests for Specific Clinical Features When the child presents with dysmorphic features, investigations need to be planned according to the findings as listed below. Discuss with IMD team for specific tests if necessary Clinical Features Hypotonia Neurological regression Neurological regression - ctd Hepatosplenomegaly Tests Very Long chain Fatty Acids Biotinidase Acylcarnitines Urate Biopterins Urate Organic acids Purine/pryimidines Creatine& guadinoacetate Csf Neurotransmitters Biopterins Biotindase Copper,caeruloplasmin Acylcarnitines Lactate White cell enzymes Biopterins Mitochondrial mutations/deletions(blood and muscle) Respiratory chain enzymes (muscles and skin) Organic acids Oligosaccharides Csf Lactate Biopterins Neurotransmitters Cholesterol triglycerides Amino acids White cell enzymes Ammonia Lactate Glucose profile Amino acids Orotic acids Bile acids Oligoscaccharides Investigation of Global Developmental Delay Sept 15 6
7 Dysmorphism Eye signs Prominent expressive language delay Hearing loss 7dehydrocholesterol Cholesterol Cholesterol precursors Very long chain fatty acids logens Transferrin isoelectric focussing (X-RAY epiphyses) Very long chain fatty acids Copper, Caeruloplasmin Homocystine White cell enzymes Amino acids((homocystine) Organic acids Creatine White cell enzyme oligosaccharides 7. Consultation Shropshire Community Health NHS Trust Community Medical Team were consulted. The meeting was attended by; Dr Angela Hulme (Consultant Paediatrician) Dr Janet Butterworth (Associate Specialist) Dr Jaishi Vaid (Locum Consultant Paediatrician) Dr Tarhini (Locum Consultant Paediatrician) Dr Chris Allsop (Associate Specialist) Dr Sue Reeves (Specialty Doctor) Dr Sarah Ogilvie (Specialty Doctor) Narinder Kular (Nurse Consultant) 8. Dissemination and Implementation The guideline will be disseminated and implemented by the following methods:- Directors/Service Leads to disseminate within their areas Staff - via Team Brief process Published to the SCHT Website 9. Monitoring Compliance Compliance will be monitored if medical investigations carried out for global delay are challenged by another clinician or service users. An audit of the guideline will be considered in the future. Investigation of Global Developmental Delay Sept 15 7
8 10. References Best practice guidelines for the biochemical investigation of global developmental delay for inherited metabolic disorders - Galloway P, Jan 2013 National Metabolic Biochemistry network/ Shevell MI, Ashwal S, Donley D, et al. Practice Parameter: Evaluation of the child with global developmental delay: Report of the quality standards subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology2003;60: [Abstract/FREE Full text] 11. Associated Documents Shropshire Community Health NHSTrust - Consent to Examination and Treatment Policy Shropshire Community Health NHS Trust - Hand Hygiene Policy Investigation of Global Developmental Delay Sept 15 8
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