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Smith-Magenis syndrome(SMS)

MedGen UID:
162881
Concept ID:
C0795864
Disease or Syndrome
Synonyms: Chromosome 17p11.2 deletion syndrome; SMS
SNOMED CT: Smith-Magenis syndrome (401315004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): RAI1 (17p11.2)
 
Monarch Initiative: MONDO:0008434
OMIM®: 182290
Orphanet: ORPHA819

Disease characteristics

Excerpted from the GeneReview: Smith-Magenis Syndrome
Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS. [from GeneReviews]
Authors:
Ann CM Smith  |  Kerry E Boyd  |  Christine Brennan, et. al.   view full author information

Additional description

From MedlinePlus Genetics
Smith-Magenis syndrome is a developmental disorder that affects behavior, emotions, and learning processes. The major features of this condition include distinctive facial features, sleep disturbances, behavioral problems, mild to moderate intellectual disability, and delayed speech and language skills.

Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in early childhood, but they usually become more distinctive in later childhood and adulthood. Dental abnormalities are also common in affected individuals.

Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, and they typically begin early in life. Affected people may have trouble falling asleep at night and awaken several times during the night and early morning. They may be very sleepy during the day.

People with Smith-Magenis syndrome typically have affectionate, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. People with Smith-Magenis syndrome may have other behaviors, such as repetitive self-hugging or compulsively licking their fingers and flipping pages of books and magazines (a behavior known as "lick and flip").

Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), obesity, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision problems. Although less common, heart and kidney defects also have been reported in people with Smith-Magenis syndrome.  https://medlineplus.gov/genetics/condition/smith-magenis-syndrome

Clinical features

From HPO
Abnormality of the urinary system
MedGen UID:
867444
Concept ID:
C4021821
Disease or Syndrome
An abnormality of the urinary system.
Abnormal renal morphology
MedGen UID:
1633142
Concept ID:
C4551596
Anatomical Abnormality
Any structural anomaly of the kidney.
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Broad palm
MedGen UID:
75535
Concept ID:
C0264142
Congenital Abnormality
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Abnormal forearm morphology
MedGen UID:
871189
Concept ID:
C4025666
Anatomical Abnormality
An abnormality of the lower arm.
Abnormal heart morphology
MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
Any structural anomaly of the heart.
Abnormal cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Anatomical Abnormality
Any structural anomaly of the heart and blood vessels.
Increased body weight
MedGen UID:
12145
Concept ID:
C0043094
Finding
Abnormally increased body weight.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Truncal obesity
MedGen UID:
1637490
Concept ID:
C4551560
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Constipation
MedGen UID:
1101
Concept ID:
C0009806
Sign or Symptom
Infrequent or difficult evacuation of feces.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Abnormality of the outer ear
MedGen UID:
335428
Concept ID:
C1846460
Anatomical Abnormality
An abnormality of the external ear.
Abnormal middle ear morphology
MedGen UID:
387824
Concept ID:
C1857456
Anatomical Abnormality
An abnormality of the morphology or structure of the middle ear.
Head-banging
MedGen UID:
42337
Concept ID:
C0018672
Mental or Behavioral Dysfunction
Habitual striking of one's own head against a surface such as a mattress or wall of a crib.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Hyperacusis
MedGen UID:
20497
Concept ID:
C0034880
Sign or Symptom
Over-sensitivity to certain frequency ranges of sound.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Self-mutilation
MedGen UID:
19925
Concept ID:
C0036601
Injury or Poisoning
Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.
Sleep abnormality
MedGen UID:
52372
Concept ID:
C0037317
Finding
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Atypical behavior
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Onychotillomania
MedGen UID:
65438
Concept ID:
C0233623
Mental or Behavioral Dysfunction
Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Sleep-wake inversion
MedGen UID:
572593
Concept ID:
C0338497
Disease or Syndrome
A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night.
Pain insensitivity
MedGen UID:
488855
Concept ID:
C0344307
Finding
Inability to perceive painful stimuli.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Impaired pain sensation
MedGen UID:
373348
Concept ID:
C1837522
Finding
Reduced ability to perceive painful stimuli.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Abnormal nerve conduction velocity
MedGen UID:
355800
Concept ID:
C1866772
Finding
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Mild global developmental delay
MedGen UID:
861405
Concept ID:
C4012968
Finding
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
Generalized non-motor (absence) seizure
MedGen UID:
1385688
Concept ID:
C4316903
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
Polyembolokoilamania
MedGen UID:
1701959
Concept ID:
C5139392
Mental or Behavioral Dysfunction
Habitual insertion of foreign bodies into bodily orifices.
Self hugging
MedGen UID:
1702098
Concept ID:
C5139398
Mental or Behavioral Dysfunction
Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Spontaneous pneumothorax
MedGen UID:
57701
Concept ID:
C0149781
Disease or Syndrome
Pneumothorax occurring without traumatic injury to the chest or lung.
Abnormal tracheobronchial morphology
MedGen UID:
867271
Concept ID:
C4021631
Anatomical Abnormality
Abnormality of the larynx
MedGen UID:
867407
Concept ID:
C4021777
Anatomical Abnormality
An abnormality of the larynx.
Chronic otitis media
MedGen UID:
75751
Concept ID:
C0271441
Disease or Syndrome
Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
Abnormality of the immune system
MedGen UID:
867388
Concept ID:
C4021753
Pathologic Function
An abnormality of the immune system.
Hypercholesterolemia
MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
An increased concentration of cholesterol in the blood.
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Velopharyngeal insufficiency
MedGen UID:
52992
Concept ID:
C0042454
Finding
Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Square face
MedGen UID:
371253
Concept ID:
C1832127
Finding
Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Broad face
MedGen UID:
349223
Concept ID:
C1859680
Finding
Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Anatomical Abnormality
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
Orofacial cleft
MedGen UID:
472000
Concept ID:
C3266076
Congenital Abnormality
The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Everted upper lip vermilion
MedGen UID:
869272
Concept ID:
C4023698
Finding
Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Abnormality of the thyroid gland
MedGen UID:
1378579
Concept ID:
C4317107
Finding
An abnormality of the thyroid gland.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Abnormality of the eye
MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSmith-Magenis syndrome
Follow this link to review classifications for Smith-Magenis syndrome in Orphanet.

Professional guidelines

PubMed

Kaplan KA, Elsea SH, Potocki L
CNS Drugs 2020 Jul;34(7):723-730. doi: 10.1007/s40263-020-00733-5. PMID: 32495322
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article
Blackmer AB, Feinstein JA
Pharmacotherapy 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. PMID: 26799351

Recent clinical studies

Etiology

Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article
Goldenberg P
Pediatr Ann 2018 May 1;47(5):e198-e203. doi: 10.3928/19382359-20180419-01. PMID: 29750287
Barrientos JC
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):128-136. doi: 10.1182/asheducation-2016.1.128. PMID: 27913471Free PMC Article
Blackmer AB, Feinstein JA
Pharmacotherapy 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. PMID: 26799351
Udwin O, Webber C, Horn I
Dev Med Child Neurol 2001 Dec;43(12):823-8. doi: 10.1017/s0012162201001499. PMID: 11769269

Diagnosis

Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzolà F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J
Cell Death Dis 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7. PMID: 36411275Free PMC Article
Rinaldi B, Villa R, Sironi A, Garavelli L, Finelli P, Bedeschi MF
Genes (Basel) 2022 Feb 11;13(2) doi: 10.3390/genes13020335. PMID: 35205380Free PMC Article
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P
Genome Med 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. PMID: 30819258Free PMC Article
Blackmer AB, Feinstein JA
Pharmacotherapy 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. PMID: 26799351
Udwin O, Webber C, Horn I
Dev Med Child Neurol 2001 Dec;43(12):823-8. doi: 10.1017/s0012162201001499. PMID: 11769269

Therapy

Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article
Gringras P, Nir T, Breddy J, Frydman-Marom A, Findling RL
J Am Acad Child Adolesc Psychiatry 2017 Nov;56(11):948-957.e4. Epub 2017 Sep 19 doi: 10.1016/j.jaac.2017.09.414. PMID: 29096777
Lamanna N, O'Brien S
Hematology Am Soc Hematol Educ Program 2016 Dec 2;2016(1):137-145. doi: 10.1182/asheducation-2016.1.137. PMID: 27913472Free PMC Article
Barrientos JC
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Blackmer AB, Feinstein JA
Pharmacotherapy 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. PMID: 26799351

Prognosis

Shayota BJ, Elsea SH
Curr Opin Psychiatry 2019 Mar;32(2):73-78. doi: 10.1097/YCO.0000000000000474. PMID: 30557269Free PMC Article
Buccheri V, Barreto WG, Fogliatto LM, Capra M, Marchiani M, Rocha V
Ann Hematol 2018 Dec;97(12):2269-2278. Epub 2018 Oct 12 doi: 10.1007/s00277-018-3503-6. PMID: 30315344
Davids MS
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):346-353. doi: 10.1182/asheducation-2017.1.346. PMID: 29222277Free PMC Article
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Best Pract Res Clin Haematol 2016 Mar;29(1):100-110. Epub 2016 Aug 12 doi: 10.1016/j.beha.2016.08.009. PMID: 27742064
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Pediatr Clin North Am 2015 Apr;62(2):411-26. Epub 2015 Jan 22 doi: 10.1016/j.pcl.2014.11.005. PMID: 25836705

Clinical prediction guides

Garayzábal E, Hidalgo I, Miranda de Souza ALD, da Silva NC, Giacheti CM, Pinato L
Res Dev Disabil 2022 Sep;128:104286. Epub 2022 Jun 29 doi: 10.1016/j.ridd.2022.104286. PMID: 35779287
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Recent systematic reviews

Hutchison DM, Duffens A, Yale K, Park A, Cardenas K, Mesinkovska NA
J Eur Acad Dermatol Venereol 2022 Apr;36(4):536-546. Epub 2021 Dec 31 doi: 10.1111/jdv.17877. PMID: 34919300
Shah M, Sachdeva M, Melendez-Gonzalez M, Piguet V, Sayed C
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Woodford EC, McLay L, France KG, Blampied NM, Gibbs R, Swan CE, Eggleston M
Sleep Med Rev 2021 Jun;57:101433. Epub 2021 Jan 17 doi: 10.1016/j.smrv.2021.101433. PMID: 33561678

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