Assessment of learning difficulty and cognitive delay

reading and/or spelling difficulties, no cognitive impairment, may have history of language delay; may show strengths in non-language visual processing

usually normal physical examination; subtle neurological signs are common (synkinesis, poor fine finger movements)

attention deficit and/or hyperactivity before 7 years old; learning and/or behavioural difficulties in the classroom and at home

usually normal physical examination; subtle neurological signs are common (synkinesis, poor fine finger movements, difficulty with anti-saccades)

antenatal or perinatal diagnosis, delayed development, may have congenital cardiac anomalies, childhood epilepsy, atlanto-occipital instability, gastrointestinal or hearing problems, may be associated with autism

dysmorphism: oblique palpebral fissures, median epicanthic fold, low nasal bridge, low-set ears, central iris Brushfield spots; short curved fifth finger, single palmar crease; may have cardiac murmur or cyanosis

mild, moderate, or severe learning difficulties; social communication difficulties (may have autism), hyperactivity and attention deficit, motor co-ordination difficulties, nervous speech; family history of learning difficulties

macrocephaly, decreased muscle tone, long face, high arched palate, prominent jaw, epicanthic folds, macro-orchidism, large ears, strabismus

infants and children: seizures (particularly infantile spasms); variable cognitive impairment; family history; hypertension, cardiac arrhythmia, headache, and vomiting, with associated astrocytoma

infants: angiofibromas on cheeks and chin; 3-16 years: hypomelanotic macules (ash leaf patches) on Wood's light examination; shagreen patches (most common in lumbar region); periungual fibromas during adolescence; retinal phakomas; hypertension, with astrocytoma; papilloedema

social communication difficulties and repetitive or/and stereotypical behaviours from early infancy; difficulties making friends, social isolation, may be associated with other cognitive disabilities but some individuals may be high functioning (previously characterised as high-functioning autism or Asperger's syndrome); more severely affected individuals may have language delay or regression; epilepsy may be present; co-ordination difficulties; hyperactivity; may be part of a syndrome (Down's, tuberous sclerosis, fragile X); more common in males

usually normal; may have macrocephaly, or features associated with a syndrome

significant maternal alcohol intake during pregnancy; delayed growth and developmental delay in infant

dysmorphism: broad nasal bridge, hypertelorism, epicanthic folds; long, flat philtrum; thin upper lip (vermilion border), prognathism, microcephaly

history of behavioural arrests or episodes of staring that interrupt otherwise normal activity, which may be associated with automatisms including movements of the eyes, face, or hands; episodes typically last 5-10 seconds and may occur multiple times each day

usually normal; formal neurocognitive testing may detect impairment in executive function; comorbid anxiety and attention deficit hyperactivity disorder are common

persistent difficulty with verbal and non-verbal communication, not explained by low cognitive ability, causing limitations in social relationships or academic achievement; there may be a history of delayed acquisition of spoken and written language

usually normal

mathematical difficulties, problems understanding arithmetic and mathematical signs, difficulty with simple number tasks (e.g., counting change); not explained by previous history; no cognitive impairment

usually normal physical examination; subtle neurological signs are common (synkinesis, poor fine finger movements)

delayed and disordered language, normal social communication, no repetitive or stereotypical behaviours

normal physical examination

difficulty understanding or responding to verbal instructions; no attention deficit; may have dyslexia

none; requires assessment by audiologist and potentially paediatrician, speech therapist, and clinical psychologist

typically mild motor delay (gross and fine movements); difficulties using a spoon and doing up zips and buttons; may have problems formulating answers to questions in a usual timescale

patients often have joint laxity, lack of co-ordination; subtle neurological signs are usual (synkinesis, poor fine finger movements, dystonic posturing with stress gait)

neonates: small for gestational age, hypotonia, feeding difficulties (prolonged nasogastric tube feeding often required), failure to thrive, excessive sleeping; children: hyperphagia and obesity from 3 years of age, speech delay, weight gain, delayed puberty

short stature, hypotonia, small hands and feet, dysmorphism, incomplete sexual development, often with cryptorchidism

severe general developmental delay and cognitive impairment, severe speech delay, episodic laughter, severe sleep difficulties, epilepsy

motor delay, delayed and disordered speech, ataxic broad-based gait, jerky arm movements

developmental delay in achieving normal childhood milestones, postnatal hypercalcaemia, speech difficulties, hyperacusis, epilepsy, motor co-ordination difficulties, excessively social personality, love of music, expressive language skills

widely spaced teeth, long philtrum, wide mouth, full lips, systolic cardiac murmur (usually aortic stenosis), speech difficulties, motor co-ordination difficulties

typically normal development up to 24 months, then regression of previously acquired skills (including hand skills and language), unsteady gait, progressive cognitive impairment, repetitive hand movements, teeth-grinding, seizures, ultimately loss of ambulation; initial normal head growth, evolving microcephaly

wringing or tapping hand movements; ataxic gait (eventually confined to wheelchair); scoliosis; hyperventilation with occasional pauses; joint deformity and muscle wasting may develop

cognitive delay; language delay, nasal speech; neonatal seizures; feeding difficulties; hearing loss

cleft palate, micrognathia, low-set ears, cardiac murmurs, facial dysmorphism, laryngo-tracheo-esophageal abnormalities

female, amenorrhoea, infertility, visual problems, hearing loss, no cognitive impairment, but specific learning difficulties common

short stature, low-set ears, webbed neck, low hairline, cubitus valgus

often associated with syndromes such as Crouzon (wide-set, bulging eyes and flat face) and Apert (flat mid-face and fused digits); may have symptoms of raised intracranial pressure (nausea, vomiting, headache)

skull deformity (craniostenosis); if intracranial pressure raised, papilloedema may be present

neonates: delayed growth, respiratory symptoms, seizures; infants: deafness, visual impairment, cognitive impairment, generalised developmental delay

hepatosplenomegaly, jaundice, microcephaly, seizures and altered consciousness (due to encephalitis), petechiae, may have increased tone

severe neonatal form: fever, bruising, seizures; less severe: visual impairment during first year of life

fever, hepatosplenomegaly, purpura, hydrocephalus, chorioretinitis, microcephaly

postnatal: irritability, feeding difficulty, cyanotic heart disease, cataracts, hearing impairment; infants/children: developmental delay, seizures, language delay, social communication difficulties

neonates: hypotonia, lethargy, cardiac murmur, cyanosis, bulging fontanelle, cataracts, retinopathy, microphthalmos, purpura, jaundice; infants or children: microcephaly, sensorineural hearing loss

intrauterine growth restriction, developmental delay, maternal use of teratogenic drugs

variable: hydrocephalus, dysmorphism, cardiac abnormalities, microcephaly, abnormal digits, facial clefts, cleft palate, spina bifida; sodium valproate: specific findings of flat nasal bridge, short philtrum, downturned mouth, overlapping digits, and urogenital abnormalities

history of low birth weight and gestational age <30 weeks; specific learning difficulties during childhood

normal appearance, or significant neurological impairment with microcephaly, spasticity, or cerebral palsy

premature or term birth, prolonged labour, fetal distress; postnatal: infant lethargy, hypotonia, feeding difficulties, floppy infant syndrome

hypotonia or hypertonia, hands in fisted position, seizures, bulging anterior fontanelle; may result in cerebral palsy (dyskinetic)

high fever, lethargy, decreased feeding, irritability, bulging fontanelle, high-pitched cry; subsequent developmental delay; mild to profound cognitive impairment, or no cognitive impairment but specific learning difficulties

during acute illness: hypotonia, irritability, opisthotonos (abnormal posturing with arched back), headache, photophobia, non-blanching rash, altered level of consciousness; may have subsequent residual deficits in vision, hearing, or co-ordination, and/or loss of digits or limbs due to septicaemia

fever, lethargy, decreased feeding, irritability, bulging fontanelle, high-pitched cry; subsequent developmental delay; mild to profound cognitive impairment, or no cognitive impairment but specific learning difficulties

hypotonia, fever, altered consciousness, spasticity, subsequent visual or hearing impairment

variable symptoms: headache worse in the morning, vomiting, visual loss, unsteady gait, new symptoms such as squint in previously normal child; history of treatment for intracerebral malignancy

focal neurological deficit (e.g., upgoing plantar reflexes or VI cranial nerve palsy), papilloedema, visual field defect

history of blunt or penetrating trauma, fall, loss of consciousness; skull fracture, behavioural difficulties, specific cognitive impairments

acute: scalp laceration, periorbital ecchymosis, cerebrospinal fluid rhinorrhoea; post-event: residual focal neurological deficit, facial or scalp scarring

hypoxic event; drowning or near-drowning; cardiac arrest; severe hypotension, shock

variable: microcephaly; mild, moderate, or profound cognitive impairment; motor disability

feeding difficulty, lethargy, constipation; patient from iodine-deficient area (e.g., Bangladesh, Peru, or China); more common in females and in babies born in multiple pregnancies

macroglossia, large fontanelles, hypotonia, cardiomegaly, bradycardia; growing child with short stature, hypertelorism (increased distance between eyes), or swollen eyelids

highly variable: growth failure, failure to thrive, developmental delay, seizures, deafness, blindness, immunodeficiency

may include ambiguous genitalia, abnormal pigmentation, abnormal hair growth, dental abnormalities, development of malignant tumours, unusual facial features

history of social deprivation, abuse, neglect, severe poverty, institutionalisation; generalised developmental delay, lack of specific skill sets (e.g., language)

normal physical examination; developmental delay, specific learning difficulties, language and social functioning may be affected

gradual deterioration of language function, usually beginning around 3-6 years of age

poor language comprehension and speaking skills in the presence of normal hearing

seizures and developmental regression in multiple domains (including language, behaviour, memory, and motor skills); development is usually normal until 2-4 years of age

poor/regressing developmental skills in language, skills, movement, and behaviour

typically have a history of delayed motor milestones, weak cry, and difficulty with feeding in infancy; easy fatigability in childhood and adulthood; some have speech-language delays, autism spectrum disorders, sensory processing disorders; other psychiatric issues include ADHD and anxiety; seizures are common (>50%)

hypotonia in infants; variable lower extremity hypertonia in older children and adults; short stature in 20% to 30%; some characteristic physical features including flat nasal bridge with 'button' nose; epicanthic folds; ears may be low-set or posteriorly rotated, with unfolded pinnae; high-arched palate

developmental delays; impaired communication and socialisation skills; expressive language impairment, including childhood apraxia of speech, with relatively preserved receptive language; some have seizures

some individuals have minor physical abnormalities, including low-set ears, partial syndactyly